Hospital das Clínicas FMUSPDivisão deAnatomia Patológica
Manual de patologia mamáriaRoteiros para formulação de laudos

Apêndice D

Referências por capítulo

Todas as referências do manual, na ordem em que aparecem em cada capítulo. Os links levam ao artigo pelo DOI.

270
citações nos 20 capítulos
186
referências diferentes
6ª ed.
Classificação de tumores da mama da OMS, base de todos os capítulos

1A glândula mamária normal

  1. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).
  2. Lerma E, Barnadas A, Prat J. Triple negative breast carcinomas: similarities and differences with basal like carcinomas. Appl Immunohistochem Mol Morphol. 2009;17(6):483-94. doi:10.1097/PAI.0b013e3181a725eb
  3. Rakha EA, Gandhi N, Climent F, van Deurzen CH, Haider SA, Dunk L, et al. Encapsulated papillary carcinoma of the breast: an invasive tumor with excellent prognosis. Am J Surg Pathol. 2011;35(8):1093-103. doi:10.1097/PAS.0b013e31821b3f65
  4. Allison KH, Hammond MEH, Dowsett M, McKernin SE, Carey LA, Fitzgibbons PL, et al. Estrogen and progesterone receptor testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists guideline update. Arch Pathol Lab Med. 2020;144(5):545-63. doi:10.5858/arpa.2019-0904-SA
  5. Dabbs DJ, Schnitt SJ, Geyer FC, Weigelt B, Baehner FL, Decker T, et al. Lobular neoplasia of the breast revisited with emphasis on the role of E-cadherin immunohistochemistry. Am J Surg Pathol. 2013;37(7):e1-11. doi:10.1097/PAS.0b013e3182918a2b
  6. Shin SJ, Simpson PT, Da Silva L, Jayanthan J, Reid L, Lakhani SR, et al. Molecular evidence for progression of microglandular adenosis (MGA) to invasive carcinoma. Am J Surg Pathol. 2009;33(4):496-504. doi:10.1097/PAS.0b013e31818af361
  7. Wolff AC, Hammond ME, Hicks DG, Dowsett M, McShane LM, Allison KH, et al. Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update. Arch Pathol Lab Med. 2014;138(2):241-56. doi:10.5858/arpa.2013-0953-SA
  8. Yaziji H, Taylor CR, Goldstein NS, Dabbs DJ, Hammond EH, Hewlett B, et al. Consensus recommendations on estrogen receptor testing in breast cancer by immunohistochemistry. Appl Immunohistochem Mol Morphol. 2008;16(6):513-20. doi:10.1097/PAI.0b013e31818a9d3a

2Macroscopia, processamento e fase pré-analítica

  1. Allison KH, Hammond MEH, Dowsett M, McKernin SE, Carey LA, Fitzgibbons PL, et al. Estrogen and progesterone receptor testing in breast cancer: ASCO/CAP guideline update. J Clin Oncol. 2020;38(12):1346-66. doi:10.1200/JCO.19.02309
  2. Wolff AC, Hammond MEH, Allison KH, Harvey BE, Mangu PB, Bartlett JMS, et al. Human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline focused update. J Clin Oncol. 2018;36(20):2105-22. doi:10.1200/JCO.2018.77.8738
  3. Yaziji H, Taylor CR, Goldstein NS, Dabbs DJ, Hammond EH, Hewlett B, et al. Consensus recommendations on estrogen receptor testing in breast cancer by immunohistochemistry. Appl Immunohistochem Mol Morphol. 2008;16(6):513-20. doi:10.1097/PAI.0b013e31818a9d3a
  4. Goldstein NS, Ferkowicz M, Odish E, Mani A, Hastah F. Minimum formalin fixation time for consistent estrogen receptor immunohistochemical staining of invasive breast carcinoma. Am J Clin Pathol. 2003;120(1):86-92. doi:10.1309/QPHD-RB00-QXGM-UQ9N
  5. Nielsen TO, Leung SCY, Rimm DL, Dodson A, Acs B, Badve S, et al. Assessment of Ki67 in breast cancer: updated recommendations from the International Ki67 in Breast Cancer Working Group. J Natl Cancer Inst. 2021;113(7):808-19. doi:10.1093/jnci/djaa201
  6. Tamaki K, Sasano H, Ishida T, Miyashita M, Takeda M, Amari M, et al. Comparison of core needle biopsy (CNB) and surgical specimens for accurate preoperative evaluation of ER, PgR and HER2 status of breast cancer patients. Cancer Sci. 2010;101(9):2074-9. doi:10.1111/j.1349-7006.2010.01630.x
  7. Acs B, Leung SCY, Kidwell KM, Arun I, Augulis R, Badve SS, et al. Systematically higher Ki67 scores on core biopsy samples compared to corresponding resection specimen in breast cancer: a multi-operator and multi-institutional study. Mod Pathol. 2022;35(10):1362-9. doi:10.1038/s41379-022-01104-9
  8. Ellis I, Webster F, Allison KH, Dang C, Gobbi H, Kulka J, et al. Dataset for reporting of the invasive carcinoma of the breast: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;85(3):418-36. doi:10.1111/his.15191
  9. Fox SB, Webster F, Chen CJ, Chua B, Collins L, Foschini MP, et al. Dataset for pathology reporting of ductal carcinoma in situ, variants of lobular carcinoma in situ and low-grade lesions: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2022;81(4):467-76. doi:10.1111/his.14725
  10. Houssami N, Macaskill P, Marinovich ML, Morrow M. The association of surgical margins and local recurrence in women with early-stage invasive breast cancer treated with breast-conserving therapy: a meta-analysis. Ann Surg Oncol. 2014;21(3):717-30. doi:10.1245/s10434-014-3480-5
  11. Moran MS, Schnitt SJ, Giuliano AE, Harris JR, Khan SA, Horton J, et al. Society of Surgical Oncology-American Society for Radiation Oncology consensus guideline on margins for breast-conserving surgery with whole-breast irradiation in stages I and II invasive breast cancer. Int J Radiat Oncol Biol Phys. 2014;88(3):553-64. doi:10.1016/j.ijrobp.2013.11.012
  12. Morrow M, Van Zee KJ, Solin LJ, Houssami N, Chavez-MacGregor M, Harris JR, et al. Society of Surgical Oncology-American Society for Radiation Oncology-American Society of Clinical Oncology consensus guideline on margins for breast-conserving surgery with whole-breast irradiation in ductal carcinoma in situ. J Clin Oncol. 2016;34(33):4040-6. doi:10.1200/JCO.2016.68.3573
  13. Schnitt SJ, Moran MS, Giuliano AE. Lumpectomy margins for invasive breast cancer and ductal carcinoma in situ: current guideline recommendations, their implications, and impact. J Clin Oncol. 2020;38(20):2240-5. doi:10.1200/JCO.19.03213
  14. Cserni G, Brogi E, Cody HS, Deb R, Farshid G, O'Toole S, et al. Reporting of surgically removed lymph nodes for breast tumors: recommendations from the International Collaboration on Cancer Reporting. Arch Pathol Lab Med. 2022;146(11):1308-18. doi:10.5858/arpa.2022-0060-RA

3Lesões papilíferas e adenose microglandular

  1. Rakha EA, Gandhi N, Climent F, van Deurzen CH, Haider SA, Dunk L, et al. Encapsulated papillary carcinoma of the breast: an invasive tumor with excellent prognosis. Am J Surg Pathol. 2011;35(8):1093-103. doi:10.1097/PAS.0b013e31821b3f65
  2. Shin SJ, Simpson PT, Da Silva L, Jayanthan J, Reid L, Lakhani SR, et al. Molecular evidence for progression of microglandular adenosis (MGA) to invasive carcinoma. Am J Surg Pathol. 2009;33(4):496-504. doi:10.1097/PAS.0b013e31818af361
  3. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).
  4. Geyer FC, Pareja F, Weigelt B, Rakha E, Ellis IO, Schnitt SJ, et al. The spectrum of triple-negative breast disease: high- and low-grade lesions. Am J Pathol. 2017;187(10):2139-51. doi:10.1016/j.ajpath.2017.03.016
  5. Fox SB, Webster F, Chen CJ, Chua B, Collins L, Foschini MP, et al. Dataset for pathology reporting of ductal carcinoma in situ, variants of lobular carcinoma in situ and low-grade lesions: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2022;81(4):467-76. doi:10.1111/his.14725

4Lesões precursoras e modelos de progressão

  1. Simpson PT, Gale T, Reis-Filho JS, Jones C, Parry S, Sloane JP, et al. Columnar cell lesions of the breast: the missing link in breast cancer progression? A morphological and molecular analysis. Am J Surg Pathol. 2005;29(6):734-46. doi:10.1097/01.pas.0000157295.93914.3b
  2. Fox SB, Webster F, Chen CJ, Chua B, Collins L, Foschini MP, et al. Dataset for pathology reporting of ductal carcinoma in situ, variants of lobular carcinoma in situ and low-grade lesions: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2022;81(4):467-76. doi:10.1111/his.14725
  3. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).
  4. Yu K, Lee CH, Tan PH, Tan P. Conservation of breast cancer molecular subtypes and transcriptional patterns of tumor progression across distinct ethnic populations. Clin Cancer Res. 2004;10(16):5508-17. doi:10.1158/1078-0432.CCR-04-0085
  5. Morrow M, Van Zee KJ, Solin LJ, Houssami N, Chavez-MacGregor M, Harris JR, et al. Society of Surgical Oncology-American Society for Radiation Oncology-American Society of Clinical Oncology consensus guideline on margins for breast-conserving surgery with whole-breast irradiation in ductal carcinoma in situ. J Clin Oncol. 2016;34(33):4040-6. doi:10.1200/JCO.2016.68.3573
  6. Tamaki K, Sasano H, Ishida T, Miyashita M, Takeda M, Amari M, et al. Comparison of core needle biopsy (CNB) and surgical specimens for accurate preoperative evaluation of ER, PgR and HER2 status of breast cancer patients. Cancer Sci. 2010;101(9):2074-9. doi:10.1111/j.1349-7006.2010.01630.x

5Neoplasia lobular e E-caderina

  1. Dabbs DJ, Schnitt SJ, Geyer FC, Weigelt B, Baehner FL, Decker T, et al. Lobular neoplasia of the breast revisited with emphasis on the role of E-cadherin immunohistochemistry. Am J Surg Pathol. 2013;37(7):e1-11. doi:10.1097/PAS.0b013e3182918a2b
  2. Weigelt B, Horlings HM, Kreike B, Hayes MM, Hauptmann M, Wessels LF, et al. Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol. 2008;216(2):141-50. doi:10.1002/path.2407
  3. Fox SB, Webster F, Chen CJ, Chua B, Collins L, Foschini MP, et al. Dataset for pathology reporting of ductal carcinoma in situ, variants of lobular carcinoma in situ and low-grade lesions: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2022;81(4):467-76. doi:10.1111/his.14725
  4. Cserni G, Brogi E, Cody HS, Deb R, Farshid G, O'Toole S, et al. Reporting of surgically removed lymph nodes for breast tumors: recommendations from the International Collaboration on Cancer Reporting. Arch Pathol Lab Med. 2022;146(11):1308-18. doi:10.5858/arpa.2022-0060-RA

6Carcinoma invasivo: tipo não especial e tipos especiais

  1. Weigelt B, Horlings HM, Kreike B, Hayes MM, Hauptmann M, Wessels LF, et al. Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol. 2008;216(2):141-50. doi:10.1002/path.2407
  2. Cserni G, Quinn CM, Foschini MP, Bianchi S, Callagy G, Chmielik E, et al. Triple-negative breast cancer histological subtypes with a favourable prognosis. Cancers (Basel). 2021;13(22):5694. doi:10.3390/cancers13225694
  3. Cima L, Kaya H, Marchiò C, Nishimura R, Wen HY, Fabbri VP, et al. Triple-negative breast carcinomas of low malignant potential: review on diagnostic criteria and differential diagnoses. Virchows Arch. 2022;480(1):109-26. doi:10.1007/s00428-021-03174-7
  4. Geyer FC, Pareja F, Weigelt B, Rakha E, Ellis IO, Schnitt SJ, et al. The spectrum of triple-negative breast disease: high- and low-grade lesions. Am J Pathol. 2017;187(10):2139-51. doi:10.1016/j.ajpath.2017.03.016
  5. Pareja F, Bhargava R, Borges VF, Brogi E, Canas Marques R, Cardoso F, et al. Unraveling complexity and leveraging opportunities in uncommon breast cancer subtypes. NPJ Breast Cancer. 2025;11(1):6. doi:10.1038/s41523-025-00719-w
  6. Ellis I, Webster F, Allison KH, Dang C, Gobbi H, Kulka J, et al. Dataset for reporting of the invasive carcinoma of the breast: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;85(3):418-36. doi:10.1111/his.15191
  7. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).
  8. Wolff AC, Hammond MEH, Allison KH, Harvey BE, Mangu PB, Bartlett JMS, et al. Human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline focused update. J Clin Oncol. 2018;36(20):2105-22. doi:10.1200/JCO.2018.77.8738

7Painéis imuno-histoquímicos no diagnóstico diferencial

  1. Rakha EA, Gandhi N, Climent F, van Deurzen CH, Haider SA, Dunk L, et al. Encapsulated papillary carcinoma of the breast: an invasive tumor with excellent prognosis. Am J Surg Pathol. 2011;35(8):1093-103. doi:10.1097/PAS.0b013e31821b3f65
  2. Shin SJ, Simpson PT, Da Silva L, Jayanthan J, Reid L, Lakhani SR, et al. Molecular evidence for progression of microglandular adenosis (MGA) to invasive carcinoma. Am J Surg Pathol. 2009;33(4):496-504. doi:10.1097/PAS.0b013e31818af361
  3. Simpson PT, Gale T, Reis-Filho JS, Jones C, Parry S, Sloane JP, et al. Columnar cell lesions of the breast: the missing link in breast cancer progression? A morphological and molecular analysis. Am J Surg Pathol. 2005;29(6):734-46. doi:10.1097/01.pas.0000157295.93914.3b
  4. Dabbs DJ, Schnitt SJ, Geyer FC, Weigelt B, Baehner FL, Decker T, et al. Lobular neoplasia of the breast revisited with emphasis on the role of E-cadherin immunohistochemistry. Am J Surg Pathol. 2013;37(7):e1-11. doi:10.1097/PAS.0b013e3182918a2b
  5. Rabban JT, Chen YY. D2-40 expression by breast myoepithelium: potential pitfalls in distinguishing intralymphatic carcinoma from in situ carcinoma. Hum Pathol. 2008;39(2):175-83. doi:10.1016/j.humpath.2007.06.018
  6. Debald M, Pölcher M, Flucke U, Walgenbach-Brünagel G, Walgenbach KJ, Höller T, et al. Increased detection of lymphatic vessel invasion by D2-40 (podoplanin) in early breast cancer: possible influence on patient selection for accelerated partial breast irradiation. Int J Radiat Oncol Biol Phys. 2010;77(4):1128-33. doi:10.1016/j.ijrobp.2009.06.088
  7. Rosen PP. Tumor emboli in intramammary lymphatics in breast carcinoma: pathologic criteria for diagnosis and clinical significance. Pathol Annu. 1983;18 Pt 2:215-32.
  8. Lerma E, Barnadas A, Prat J. Triple negative breast carcinomas: similarities and differences with basal like carcinomas. Appl Immunohistochem Mol Morphol. 2009;17(6):483-94. doi:10.1097/PAI.0b013e3181a725eb
  9. Cserni G, Brogi E, Cody HS, Deb R, Farshid G, O'Toole S, et al. Reporting of surgically removed lymph nodes for breast tumors: recommendations from the International Collaboration on Cancer Reporting. Arch Pathol Lab Med. 2022;146(11):1308-18. doi:10.5858/arpa.2022-0060-RA
  10. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).

8Fatores prognósticos anatomopatológicos

  1. Amin MB, Greene FL, Edge SB, Compton CC, Gershenwald JE, Brookland RK, et al. The eighth edition AJCC cancer staging manual: continuing to build a bridge from a population-based to a more "personalized" approach to cancer staging. CA Cancer J Clin. 2017;67(2):93-9. doi:10.3322/caac.21388
  2. Giuliano AE, Connolly JL, Edge SB, Mittendorf EA, Rugo HS, Solin LJ, et al. Breast cancer — major changes in the American Joint Committee on Cancer eighth edition cancer staging manual. CA Cancer J Clin. 2017;67(4):290-303. doi:10.3322/caac.21393
  3. Iqbal J, Ginsburg O, Rochon PA, Sun P, Narod SA. Differences in breast cancer stage at diagnosis and cancer-specific survival by race and ethnicity in the United States. JAMA. 2015;313(2):165-73. doi:10.1001/jama.2014.17322
  4. Elston CW, Ellis IO. Pathological prognostic factors in breast cancer. I. The value of histological grade in breast cancer: experience from a large study with long-term follow-up. Histopathology. 1991;19(5):403-10. doi:10.1111/j.1365-2559.1991.tb00229.x
  5. Rakha EA, El-Sayed ME, Lee AH, Elston CW, Grainge MJ, Hodi Z, et al. Prognostic significance of Nottingham histologic grade in invasive breast carcinoma. J Clin Oncol. 2008;26(19):3153-8. doi:10.1200/JCO.2007.15.5986
  6. Rakha EA, Reis-Filho JS, Baehner F, Dabbs DJ, Decker T, Eusebi V, et al. Breast cancer prognostic classification in the molecular era: the role of histological grade. Breast Cancer Res. 2010;12(4):207. doi:10.1186/bcr2607
  7. Ibrahim A, Lashen A, Toss M, Mihai R, Rakha E. Assessment of mitotic activity in breast cancer: revisited in the digital pathology era. J Clin Pathol. 2022;75(6):365-72. doi:10.1136/jclinpath-2021-207742
  8. Rosen PP. Tumor emboli in intramammary lymphatics in breast carcinoma: pathologic criteria for diagnosis and clinical significance. Pathol Annu. 1983;18 Pt 2:215-32.
  9. Rakha EA, Martin S, Lee AH, Morgan D, Pharoah PD, Hodi Z, et al. The prognostic significance of lymphovascular invasion in invasive breast carcinoma. Cancer. 2012;118(15):3670-80. doi:10.1002/cncr.26711
  10. Zhang Y, Wang H, Zhao H, He X, Wang Y, Wang H, et al. Prognostic significance and value of further classification of lymphovascular invasion in invasive breast cancer: a retrospective observational study. Breast Cancer Res Treat. 2024;206(2):397-410. doi:10.1007/s10549-024-07318-6
  11. Tamaki K, Sasano H, Ishida T, Miyashita M, Takeda M, Amari M, et al. Comparison of core needle biopsy (CNB) and surgical specimens for accurate preoperative evaluation of ER, PgR and HER2 status of breast cancer patients. Cancer Sci. 2010;101(9):2074-9. doi:10.1111/j.1349-7006.2010.01630.x
  12. Ellis I, Webster F, Allison KH, Dang C, Gobbi H, Kulka J, et al. Dataset for reporting of the invasive carcinoma of the breast: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;85(3):418-36. doi:10.1111/his.15191
  13. Pantanowitz L, Hartman D, Qi Y, Cho EY, Suh B, Paeng K, et al. Accuracy and efficiency of an artificial intelligence tool when counting breast mitoses. Diagn Pathol. 2020;15(1):80. doi:10.1186/s13000-020-00995-z
  14. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).

9Linfonodos

  1. Cserni G, Brogi E, Cody HS, Deb R, Farshid G, O'Toole S, et al. Reporting of surgically removed lymph nodes for breast tumors: recommendations from the International Collaboration on Cancer Reporting. Arch Pathol Lab Med. 2022;146(11):1308-18. doi:10.5858/arpa.2022-0060-RA
  2. Giuliano AE, Connolly JL, Edge SB, Mittendorf EA, Rugo HS, Solin LJ, et al. Breast cancer — major changes in the American Joint Committee on Cancer eighth edition cancer staging manual. CA Cancer J Clin. 2017;67(4):290-303. doi:10.3322/caac.21393
  3. Petrelli F, Lonati V, Barni S. Axillary dissection compared to sentinel node biopsy for the treatment of pathologically node-negative breast cancer: a meta-analysis of four randomized trials with long-term follow up. Oncol Rev. 2012;6(2):e20. doi:10.4081/oncol.2012.e20
  4. Bartels SAL, Donker M, Poncet C, Sauvé N, Straver ME, van de Velde CJH, et al. Radiotherapy or surgery of the axilla after a positive sentinel node in breast cancer: 10-year results of the randomized controlled EORTC 10981-22023 AMAROS trial. J Clin Oncol. 2023;41(12):2159-65. doi:10.1200/JCO.22.01565
  5. Sávolt Á, Péley G, Polgár C, Udvarhelyi N, Rubovszky G, Kovács E, et al. Eight-year follow up result of the OTOASOR trial: the Optimal Treatment Of the Axilla - Surgery Or Radiotherapy after positive sentinel lymph node biopsy in early-stage breast cancer: a randomized, single centre, phase III, non-inferiority trial. Eur J Surg Oncol. 2017;43(4):672-9. doi:10.1016/j.ejso.2016.12.011
  6. de Boniface J, Filtenborg Tvedskov T, Rydén L, Szulkin R, Reimer T, Kühn T, et al. Omitting axillary dissection in breast cancer with sentinel-node metastases. N Engl J Med. 2024;390(13):1163-75. doi:10.1056/NEJMoa2313487
  7. Gentilini OD, Botteri E, Sangalli C, Galimberti V, Porpiglia M, Agresti R, et al. Sentinel lymph node biopsy vs no axillary surgery in patients with small breast cancer and negative results on ultrasonography of axillary lymph nodes: the SOUND randomized clinical trial. JAMA Oncol. 2023;9(11):1557-64. doi:10.1001/jamaoncol.2023.3759
  8. Fan YJ, Li JC, Zhu DM, Zhu HL, Zhao Y, Zhu XB, et al. Efficacy and safety comparison between axillary lymph node dissection with no axillary surgery in patients with sentinel node-positive breast cancer: a systematic review and meta-analysis. BMC Surg. 2023;23(1):209. doi:10.1186/s12893-023-02101-8
  9. Lim J, Govindarajulu S, Sahu A, Ibrahim N, Magdub S, Cawthorn S. Multiple step-section frozen section sentinel lymph node biopsy — a review of 717 patients. Breast. 2013;22(5):639-42. doi:10.1016/j.breast.2013.07.044
  10. Pétursson HI, Kovács A, Mattsson J, Olofsson Bagge R. Evaluation of intraoperative touch imprint cytology on axillary sentinel lymph nodes in invasive breast carcinomas, a retrospective study of 1227 patients comparing sensitivity in the different tumor subtypes. PLoS One. 2018;13(4):e0195560. doi:10.1371/journal.pone.0195560
  11. Pathmanathan N, Renthawa J, French JR, Edstrom-Elder E, Hall G, Mahajan H, et al. Intraoperative sentinel lymph node assessment in breast cancer: a comparison of rapid diagnostic method based on CK19 mRNA expression and imprint cytology. ANZ J Surg. 2014;84(10):730-4. doi:10.1111/ans.12668
  12. Cutress RI, McDowell A, Gabriel FG, Gill J, Jeffrey MJ, Agrawal A, et al. Observational and cost analysis of the implementation of breast cancer sentinel node intraoperative molecular diagnosis. J Clin Pathol. 2010;63(6):522-9. doi:10.1136/jcp.2009.072942
  13. Fillion MM, Glass KE, Hayek J, Wehr A, Phillips G, Terando A, et al. Healthcare costs reduced after incorporating the results of the American College of Surgeons Oncology Group Z0011 trial into clinical practice. Breast J. 2017;23(3):275-81. doi:10.1111/tbj.12728
  14. Swarnkar PK, Tayeh S, Michell MJ, Mokbel K. The evolving role of marked lymph node biopsy (MLNB) and targeted axillary dissection (TAD) after neoadjuvant chemotherapy (NACT) for node-positive breast cancer: systematic review and pooled analysis. Cancers (Basel). 2021;13(7):1539. doi:10.3390/cancers13071539

10Classificação molecular

  1. Perou CM, Sørlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000;406(6797):747-52. doi:10.1038/35021093
  2. Sørlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A. 2003;100(14):8418-23. doi:10.1073/pnas.0932692100
  3. Wirapati P, Sotiriou C, Kunkel S, Farmer P, Pradervand S, Haibe-Kains B, et al. Meta-analysis of gene expression profiles in breast cancer: toward a unified understanding of breast cancer subtyping and prognosis signatures. Breast Cancer Res. 2008;10(4):R65. doi:10.1186/bcr2124
  4. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70. doi:10.1038/nature11412
  5. Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature. 2012;486(7403):346-52. doi:10.1038/nature10983
  6. Rueda OM, Sammut SJ, Seoane JA, Chin SF, Caswell-Jin JL, Callari M, et al. Dynamics of breast-cancer relapse reveal late-recurring ER-positive genomic subgroups. Nature. 2019;567(7748):399-404. doi:10.1038/s41586-019-1007-8
  7. Carey LA, Perou CM, Livasy CA, Dressler LG, Cowan D, Conway K, et al. Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA. 2006;295(21):2492-502. doi:10.1001/jama.295.21.2492
  8. Cheang MC, Chia SK, Voduc D, Gao D, Leung S, Snider J, et al. Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst. 2009;101(10):736-50. doi:10.1093/jnci/djp082
  9. Prat A, Cheang MC, Martín M, Parker JS, Carrasco E, Caballero R, et al. Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal A breast cancer. J Clin Oncol. 2013;31(2):203-9. doi:10.1200/JCO.2012.43.4134
  10. Senkus E, Kyriakides S, Penault-Llorca F, Poortmans P, Thompson A, Zackrisson S, et al. Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2013;24 Suppl 6:vi7-23. doi:10.1093/annonc/mdt284
  11. Curigliano G, Burstein HJ, Winer EP, Gnant M, Dubsky P, Loibl S, et al. De-escalating and escalating treatments for early-stage breast cancer: the St. Gallen International Expert Consensus Conference on the Primary Therapy of Early Breast Cancer 2017. Ann Oncol. 2017;28(8):1700-12. doi:10.1093/annonc/mdx308
  12. Loibl S, André F, Bachelot T, Barrios CH, Bergh J, Burstein HJ, et al. Early breast cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2024;35(2):159-82. doi:10.1016/j.annonc.2023.11.016
  13. Prat A, Carey LA, Adamo B, Vidal M, Tabernero J, Cortés J, et al. Molecular features and survival outcomes of the intrinsic subtypes within HER2-positive breast cancer. J Natl Cancer Inst. 2014;106(8):dju152. doi:10.1093/jnci/dju152
  14. Prat A, Bianchini G, Thomas M, Belousov A, Cheang MC, Koehler A, et al. Research-based PAM50 subtype predictor identifies higher responses and improved survival outcomes in HER2-positive breast cancer in the NOAH study. Clin Cancer Res. 2014;20(2):511-21. doi:10.1158/1078-0432.CCR-13-0239
  15. Cheang MC, Voduc KD, Tu D, Jiang S, Leung S, Chia SK, et al. Responsiveness of intrinsic subtypes to adjuvant anthracycline substitution in the NCIC.CTG MA.5 randomized trial. Clin Cancer Res. 2012;18(8):2402-12. doi:10.1158/1078-0432.CCR-11-2956
  16. Livasy CA, Karaca G, Nanda R, Tretiakova MS, Olopade OI, Moore DT, et al. Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma. Mod Pathol. 2006;19(2):264-71. doi:10.1038/modpathol.3800528
  17. Aftimos P, Oliveira M, Irrthum A, Fumagalli D, Sotiriou C, Gal-Yam EN, et al. Genomic and transcriptomic analyses of breast cancer primaries and matched metastases in AURORA, the Breast International Group (BIG) Molecular Screening Initiative. Cancer Discov. 2021;11(11):2796-811. doi:10.1158/2159-8290.CD-20-1647

11Imuno-histoquímica: princípios e controle de qualidade

  1. Hammond ME, Hayes DF, Dowsett M, Allred DC, Hagerty KL, Badve S, et al. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer (unabridged version). Arch Pathol Lab Med. 2010;134(7):e48-72. doi:10.5858/134.7.e48
  2. Allison KH, Hammond MEH, Dowsett M, McKernin SE, Carey LA, Fitzgibbons PL, et al. Estrogen and progesterone receptor testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists guideline update. Arch Pathol Lab Med. 2020;144(5):545-63. doi:10.5858/arpa.2019-0904-SA
  3. Yaziji H, Taylor CR, Goldstein NS, Dabbs DJ, Hammond EH, Hewlett B, et al. Consensus recommendations on estrogen receptor testing in breast cancer by immunohistochemistry. Appl Immunohistochem Mol Morphol. 2008;16(6):513-20. doi:10.1097/PAI.0b013e31818a9d3a
  4. Rhodes A, Jasani B, Barnes DM, Bobrow LG, Miller KD. Reliability of immunohistochemical demonstration of oestrogen receptors in routine practice: interlaboratory variance in the sensitivity of detection and evaluation of scoring systems. J Clin Pathol. 2000;53(2):125-30. doi:10.1136/jcp.53.2.125
  5. Cheang MC, Treaba DO, Speers CH, Olivotto IA, Bajdik CD, Chia SK, et al. Immunohistochemical detection using the new rabbit monoclonal antibody SP1 of estrogen receptor in breast cancer is superior to mouse monoclonal antibody 1D5 in predicting survival. J Clin Oncol. 2006;24(36):5637-44. doi:10.1200/JCO.2005.05.4155
  6. Phillips T, Murray G, Wakamiya K, Askaa J, Huang D, Welcher R, et al. Development of standard estrogen and progesterone receptor immunohistochemical assays for selection of patients for antihormonal therapy. Appl Immunohistochem Mol Morphol. 2007;15(3):325-31. doi:10.1097/01.pai.0000213135.16783.bc
  7. Kornaga EN, Klimowicz AC, Guggisberg N, Ogilvie T, Morris DG, Webster M, et al. A systematic comparison of three commercial estrogen receptor assays in a single clinical outcome breast cancer cohort. Mod Pathol. 2016;29(8):799-809. doi:10.1038/modpathol.2016.74
  8. Wludarski SC, Bacchi CE. High concordance of SP3 rabbit monoclonal antibody with FISH to evaluate HER2 in breast carcinoma. Appl Immunohistochem Mol Morphol. 2008;16(5):466-70. doi:10.1097/PAI.0b013e318162625c
  9. Goldstein NS, Ferkowicz M, Odish E, Mani A, Hastah F. Minimum formalin fixation time for consistent estrogen receptor immunohistochemical staining of invasive breast carcinoma. Am J Clin Pathol. 2003;120(1):86-92. doi:10.1309/QPHD-RB00-QXGM-UQ9N
  10. Grimm EE, Schmidt RA, Swanson PE, Dintzis SM, Allison KH. Achieving 95% cross-methodological concordance in HER2 testing: causes and implications of discordant cases. Am J Clin Pathol. 2010;134(2):284-92. doi:10.1309/AJCPUQB18XZOHHBJ
  11. Nassar A, Cohen C, Agersborg SS, Zhou W, Lynch KA, Heyman ER, et al. A new immunohistochemical ER/PR image analysis system: a multisite performance study. Appl Immunohistochem Mol Morphol. 2011;19(3):195-202. doi:10.1097/PAI.0b013e3181fe53cb
  12. Acs B, Leung SCY, Kidwell KM, Arun I, Augulis R, Badve SS, et al. Systematically higher Ki67 scores on core biopsy samples compared to corresponding resection specimen in breast cancer: a multi-operator and multi-institutional study. Mod Pathol. 2022;35(10):1362-9. doi:10.1038/s41379-022-01104-9
  13. College of American Pathologists. Surveys 2013 — HER2-A: immunohistochemistry tissue microarray. Participant summary. Northfield (IL): CAP; 2013. (Dados reproduzidos na aula do autor, 2014.)
  14. Ellis I, Webster F, Allison KH, Dang C, Gobbi H, Kulka J, et al. Dataset for reporting of the invasive carcinoma of the breast: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;85(3):418-36. doi:10.1111/his.15191

12Receptores de estrógeno e progesterona

  1. McCarty KS Jr, Miller LS, Cox EB, Konrath J, McCarty KS Sr. Estrogen receptor analyses. Correlation of biochemical and immunohistochemical methods using monoclonal antireceptor antibodies. Arch Pathol Lab Med. 1985;109(8):716-21.
  2. Allred DC, Harvey JM, Berardo M, Clark GM. Prognostic and predictive factors in breast cancer by immunohistochemical analysis. Mod Pathol. 1998;11(2):155-68.
  3. Harvey JM, Clark GM, Osborne CK, Allred DC. Estrogen receptor status by immunohistochemistry is superior to the ligand-binding assay for predicting response to adjuvant endocrine therapy in breast cancer. J Clin Oncol. 1999;17(5):1474-81. doi:10.1200/JCO.1999.17.5.1474
  4. Rhodes A, Jasani B, Barnes DM, Bobrow LG, Miller KD. Reliability of immunohistochemical demonstration of oestrogen receptors in routine practice: interlaboratory variance in the sensitivity of detection and evaluation of scoring systems. J Clin Pathol. 2000;53(2):125-30. doi:10.1136/jcp.53.2.125
  5. Goldstein NS, Ferkowicz M, Odish E, Mani A, Hastah F. Minimum formalin fixation time for consistent estrogen receptor immunohistochemical staining of invasive breast carcinoma. Am J Clin Pathol. 2003;120(1):86-92. doi:10.1309/QPHD-RB00-QXGM-UQ9N
  6. Regan MM, Viale G, Mastropasqua MG, Maiorano E, Golouh R, Carbone A, et al. Re-evaluating adjuvant breast cancer trials: assessing hormone receptor status by immunohistochemical versus extraction assays. J Natl Cancer Inst. 2006;98(21):1571-81. doi:10.1093/jnci/djj415
  7. Viale G, Regan MM, Maiorano E, Mastropasqua MG, Dell'Orto P, Rasmussen BB, et al. Prognostic and predictive value of centrally reviewed expression of estrogen and progesterone receptors in a randomized trial comparing letrozole and tamoxifen adjuvant therapy for postmenopausal early breast cancer: BIG 1-98. J Clin Oncol. 2007;25(25):3846-52. doi:10.1200/JCO.2007.11.9453
  8. Viale G, Regan MM, Maiorano E, Mastropasqua MG, Golouh R, Perin T, et al. Chemoendocrine compared with endocrine adjuvant therapies for node-negative breast cancer: predictive value of centrally reviewed expression of estrogen and progesterone receptors — International Breast Cancer Study Group. J Clin Oncol. 2008;26(9):1404-10. doi:10.1200/JCO.2007.10.6393
  9. Cheang MC, Treaba DO, Speers CH, Olivotto IA, Bajdik CD, Chia SK, et al. Immunohistochemical detection using the new rabbit monoclonal antibody SP1 of estrogen receptor in breast cancer is superior to mouse monoclonal antibody 1D5 in predicting survival. J Clin Oncol. 2006;24(36):5637-44. doi:10.1200/JCO.2005.05.4155
  10. Phillips T, Murray G, Wakamiya K, Askaa J, Huang D, Welcher R, et al. Development of standard estrogen and progesterone receptor immunohistochemical assays for selection of patients for antihormonal therapy. Appl Immunohistochem Mol Morphol. 2007;15(3):325-31. doi:10.1097/01.pai.0000213135.16783.bc
  11. Dowsett M, Allred C, Knox J, Quinn E, Salter J, Wale C, et al. Relationship between quantitative estrogen and progesterone receptor expression and human epidermal growth factor receptor 2 (HER-2) status with recurrence in the Arimidex, Tamoxifen, Alone or in Combination trial. J Clin Oncol. 2008;26(7):1059-65. doi:10.1200/JCO.2007.12.9437
  12. Mohsin SK, Weiss H, Havighurst T, Clark GM, Berardo M, Roanh LD, et al. Progesterone receptor by immunohistochemistry and clinical outcome in breast cancer: a validation study. Mod Pathol. 2004;17(12):1545-54. doi:10.1038/modpathol.3800229
  13. Collins LC, Botero ML, Schnitt SJ. Bimodal frequency distribution of estrogen receptor immunohistochemical staining results in breast cancer: an analysis of 825 cases. Am J Clin Pathol. 2005;123(1):16-20. doi:10.1309/hcf035n9wk40etj0
  14. Bhargava R, Chivukula M, Beriwal S, Dabbs DJ. Estrogen and progesterone receptors in breast carcinoma: quantitation is therapeutically important. Adv Anat Pathol. 2008;15(5):304-5. doi:10.1097/PAP.0b013e3181832381
  15. Hammond ME, Hayes DF, Dowsett M, Allred DC, Hagerty KL, Badve S, et al. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer (unabridged version). Arch Pathol Lab Med. 2010;134(7):e48-72. doi:10.5858/134.7.e48
  16. Allison KH, Hammond MEH, Dowsett M, McKernin SE, Carey LA, Fitzgibbons PL, et al. Estrogen and progesterone receptor testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists guideline update. Arch Pathol Lab Med. 2020;144(5):545-63. doi:10.5858/arpa.2019-0904-SA
  17. Iwamoto T, Booser D, Valero V, Murray JL, Koenig K, Esteva FJ, et al. Estrogen receptor (ER) mRNA and ER-related gene expression in breast cancers that are 1% to 10% ER-positive by immunohistochemistry. J Clin Oncol. 2012;30(7):729-34. doi:10.1200/JCO.2011.36.2574
  18. Chen T, Zhang N, Moran MS, Su P, Haffty BG, Yang Q. Borderline ER-positive primary breast cancer gains no significant survival benefit from endocrine therapy: a systematic review and meta-analysis. Clin Breast Cancer. 2018;18(1):1-8. doi:10.1016/j.clbc.2017.06.005
  19. Chen HL, Huang FB, Chen Q, Deng YC. Impact of estrogen receptor expression level on response to neoadjuvant chemotherapy and prognosis in HER2-negative breast cancers. BMC Cancer. 2023;23(1):841. doi:10.1186/s12885-023-11368-2
  20. Balduzzi A, Bagnardi V, Rotmensz N, Dellapasqua S, Montagna E, Cardillo A, et al. Survival outcomes in breast cancer patients with low estrogen/progesterone receptor expression. Clin Breast Cancer. 2014;14(4):258-64. doi:10.1016/j.clbc.2013.10.019
  21. Yu KD, Cai YW, Wu SY, Shui RH, Shao ZM. Estrogen receptor-low breast cancer: biology chaos and treatment paradox. Cancer Commun (Lond). 2021;41(10):968-80. doi:10.1002/cac2.12191
  22. Purdie CA, Quinlan P, Jordan LB, Ashfield A, Ogston S, Dewar JA, et al. Progesterone receptor expression is an independent prognostic variable in early breast cancer: a population-based study. Br J Cancer. 2014;110(3):565-72. doi:10.1038/bjc.2013.756
  23. Nordenskjöld A, Fohlin H, Fornander T, Löfdahl B, Skoog L, Stål O. Progesterone receptor positivity is a predictor of long-term benefit from adjuvant tamoxifen treatment of estrogen receptor positive breast cancer. Breast Cancer Res Treat. 2016;160(2):313-22. doi:10.1007/s10549-016-4007-5
  24. Prat A, Cheang MC, Martín M, Parker JS, Carrasco E, Caballero R, et al. Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal A breast cancer. J Clin Oncol. 2013;31(2):203-9. doi:10.1200/JCO.2012.43.4134
  25. Lashen AG, Toss MS, Mongan NP, Green AR, Rakha EA. The clinical value of progesterone receptor expression in luminal breast cancer: a study of a large cohort with long-term follow-up. Cancer. 2023;129(8):1183-94. doi:10.1002/cncr.34655
  26. Kurozumi S, Matsumoto H, Hayashi Y, Tozuka K, Inoue K, Horiguchi J, et al. Power of PgR expression as a prognostic factor for ER-positive/HER2-negative breast cancer patients at intermediate risk classified by the Ki67 labeling index. BMC Cancer. 2017;17(1):354. doi:10.1186/s12885-017-3331-4
  27. Shen T, Brandwein-Gensler M, Hameed O, Siegal GP, Wei S. Characterization of estrogen receptor-negative/progesterone receptor-positive breast cancer. Hum Pathol. 2015;46(11):1776-84. doi:10.1016/j.humpath.2015.07.019
  28. Zheng H, Ge C, Lin H, Wu L, Wang Q, Zhou S, et al. Estrogen receptor-negative/progesterone receptor-positive and her-2-negative breast cancer might no longer be classified as hormone receptor-positive. Int J Clin Oncol. 2022;27(7):1145-53. doi:10.1007/s10147-022-02158-0
  29. Dou H, Li F, Wang Y, Chen X, Yu P, Jia S, et al. Estrogen receptor-negative/progesterone receptor-positive breast cancer has distinct characteristics and pathologic complete response rate after neoadjuvant chemotherapy. Diagn Pathol. 2024;19(1):5. doi:10.1186/s13000-023-01433-6
  30. Kunc M, Biernat W, Senkus-Konefka E. Estrogen receptor-negative progesterone receptor-positive breast cancer — "Nobody's land" or just an artifact? Cancer Treat Rev. 2018;67:78-87. doi:10.1016/j.ctrv.2018.05.005
  31. Kornaga EN, Klimowicz AC, Guggisberg N, Ogilvie T, Morris DG, Webster M, et al. A systematic comparison of three commercial estrogen receptor assays in a single clinical outcome breast cancer cohort. Mod Pathol. 2016;29(8):799-809. doi:10.1038/modpathol.2016.74

13HER2

  1. Wolff AC, Hammond ME, Hicks DG, Dowsett M, McShane LM, Allison KH, et al. Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update. Arch Pathol Lab Med. 2014;138(2):241-56. doi:10.5858/arpa.2013-0953-SA
  2. Wolff AC, Hammond MEH, Allison KH, Harvey BE, Mangu PB, Bartlett JMS, et al. Human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline focused update. J Clin Oncol. 2018;36(20):2105-22. doi:10.1200/JCO.2018.77.8738
  3. Wolff AC, Somerfield MR, Dowsett M, Hammond MEH, Hayes DF, McShane LM, et al. Human epidermal growth factor receptor 2 testing in breast cancer: ASCO-College of American Pathologists guideline update. J Clin Oncol. 2023;41(22):3867-72. doi:10.1200/JCO.22.02864
  4. Rakha EA, Tan PH, Quinn C, Provenzano E, Shaaban AM, Deb R, et al. UK recommendations for HER2 assessment in breast cancer: an update. J Clin Pathol. 2023;76(4):217-27. doi:10.1136/jcp-2022-208632
  5. Lal P, Salazar PA, Hudis CA, Ladanyi M, Chen B. HER-2 testing in breast cancer using immunohistochemical analysis and fluorescence in situ hybridization: a single-institution experience of 2,279 cases and comparison of dual-color and single-color scoring. Am J Clin Pathol. 2004;121(5):631-6. doi:10.1309/VE78-62V2-646B-R6EX
  6. Wang S, Saboorian MH, Frenkel E, Hynan L, Gokaslan ST, Ashfaq R. Laboratory assessment of the status of Her-2/neu protein and oncogene in breast cancer specimens: comparison of immunohistochemistry assay with fluorescence in situ hybridisation assays. J Clin Pathol. 2000;53(5):374-81. doi:10.1136/jcp.53.5.374
  7. Grimm EE, Schmidt RA, Swanson PE, Dintzis SM, Allison KH. Achieving 95% cross-methodological concordance in HER2 testing: causes and implications of discordant cases. Am J Clin Pathol. 2010;134(2):284-92. doi:10.1309/AJCPUQB18XZOHHBJ
  8. Allison KH. Ancillary prognostic and predictive testing in breast cancer: focus on discordant, unusual, and borderline results. Surg Pathol Clin. 2018;11(1):147-76. doi:10.1016/j.path.2017.09.006
  9. Wludarski SC, Bacchi CE. High concordance of SP3 rabbit monoclonal antibody with FISH to evaluate HER2 in breast carcinoma. Appl Immunohistochem Mol Morphol. 2008;16(5):466-70. doi:10.1097/PAI.0b013e318162625c
  10. Prat A, Carey LA, Adamo B, Vidal M, Tabernero J, Cortés J, et al. Molecular features and survival outcomes of the intrinsic subtypes within HER2-positive breast cancer. J Natl Cancer Inst. 2014;106(8):dju152. doi:10.1093/jnci/dju152
  11. Swain SM, Shastry M, Hamilton E. Targeting HER2-positive breast cancer: advances and future directions. Nat Rev Drug Discov. 2023;22(2):101-26. doi:10.1038/s41573-022-00579-0
  12. Modi S, Jacot W, Yamashita T, Sohn J, Vidal M, Tokunaga E, et al. Trastuzumab deruxtecan in previously treated HER2-low advanced breast cancer. N Engl J Med. 2022;387(1):9-20. doi:10.1056/NEJMoa2203690
  13. Bardia A, Hu X, Dent R, Yonemori K, Barrios CH, O'Shaughnessy JA, et al. Trastuzumab deruxtecan after endocrine therapy in metastatic breast cancer. N Engl J Med. 2024;391(22):2110-22. doi:10.1056/NEJMoa2407086
  14. Mosele F, Deluche E, Lusque A, Le Bescond L, Filleron T, Pradat Y, et al. Trastuzumab deruxtecan in metastatic breast cancer with variable HER2 expression: the phase 2 DAISY trial. Nat Med. 2023;29(8):2110-20. doi:10.1038/s41591-023-02478-2
  15. Fernandez AI, Liu M, Bellizzi A, Brock J, Fadare O, Hanley K, et al. Examination of low ERBB2 protein expression in breast cancer tissue. JAMA Oncol. 2022;8(4):607-10. doi:10.1001/jamaoncol.2021.7239
  16. Moutafi M, Robbins CJ, Yaghoobi V, Fernandez AI, Martinez-Morilla S, Xirou V, et al. Quantitative measurement of HER2 expression to subclassify ERBB2 unamplified breast cancer. Lab Invest. 2022;102(10):1101-8. doi:10.1038/s41374-022-00804-9
  17. Allison KH, Wolff AC. ERBB2-low breast cancer — is it a fact or fiction, and do we have the right assay? JAMA Oncol. 2022;8(4):610-1. doi:10.1001/jamaoncol.2021.7082
  18. Tarantino P, Viale G, Press MF, Hu X, Penault-Llorca F, Bardia A, et al. ESMO expert consensus statements (ECS) on the definition, diagnosis, and management of HER2-low breast cancer. Ann Oncol. 2023;34(8):645-59. doi:10.1016/j.annonc.2023.05.008
  19. Ivanova M, Porta FM, D'Ercole M, Pescia C, Sajjadi E, Cursano G, et al. Standardized pathology report for HER2 testing in compliance with 2023 ASCO/CAP updates and 2023 ESMO consensus statements on HER2-low breast cancer. Virchows Arch. 2024;484(1):3-14. doi:10.1007/s00428-023-03656-w
  20. von Minckwitz G, Huang CS, Mano MS, Loibl S, Mamounas EP, Untch M, et al. Trastuzumab emtansine for residual invasive HER2-positive breast cancer. N Engl J Med. 2019;380(7):617-28. doi:10.1056/NEJMoa1814017

14Ki-67 e proliferação

  1. Nielsen TO, Leung SCY, Rimm DL, Dodson A, Acs B, Badve S, et al. Assessment of Ki67 in breast cancer: updated recommendations from the International Ki67 in Breast Cancer Working Group. J Natl Cancer Inst. 2021;113(7):808-19. doi:10.1093/jnci/djaa201
  2. Cheang MC, Chia SK, Voduc D, Gao D, Leung S, Snider J, et al. Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst. 2009;101(10):736-50. doi:10.1093/jnci/djp082
  3. Acs B, Leung SCY, Kidwell KM, Arun I, Augulis R, Badve SS, et al. Systematically higher Ki67 scores on core biopsy samples compared to corresponding resection specimen in breast cancer: a multi-operator and multi-institutional study. Mod Pathol. 2022;35(10):1362-9. doi:10.1038/s41379-022-01104-9
  4. Rossi L, Laas E, Mallon P, Vincent-Salomon A, Guinebretiere JM, Lerebours F, et al. Prognostic impact of discrepant Ki67 and mitotic index on hormone receptor-positive, HER2-negative breast carcinoma. Br J Cancer. 2015;113(7):996-1002. doi:10.1038/bjc.2015.239
  5. Williams DJ, Cohen C, Darrow M, Page AJ, Chastain B, Adams AL. Proliferation (Ki-67 and phosphohistone H3) and oncotype DX recurrence score in estrogen receptor-positive breast cancer. Appl Immunohistochem Mol Morphol. 2011;19(5):431-6. doi:10.1097/PAI.0b013e318206d23d
  6. Mooghal M, Khan MAA, Samar MR, Shaikh H, Valimohammad AT, Idrees R, et al. Association between Ki-67 proliferative index and Oncotype-Dx recurrence score in hormone receptor-positive, HER2-negative early breast cancers: a systematic review. Breast Cancer (Auckl). 2024;18:11782234241255211. doi:10.1177/11782234241255211
  7. Bhargava R, Dabbs DJ. The story of the Magee equations: the ultimate in applied immunohistochemistry. Appl Immunohistochem Mol Morphol. 2023;31(7):490-9. doi:10.1097/PAI.0000000000001065
  8. Bhargava R, Clark BZ, Dabbs DJ. Breast cancers with Magee equation score of less than 18, or 18-25 and mitosis score of 1, do not require Oncotype DX testing: a value study. Am J Clin Pathol. 2019;151(3):316-23. doi:10.1093/ajcp/aqy148
  9. Ellis I, Webster F, Allison KH, Dang C, Gobbi H, Kulka J, et al. Dataset for reporting of the invasive carcinoma of the breast: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;85(3):418-36. doi:10.1111/his.15191

15Carcinoma triplo-negativo e basal

  1. Rakha EA, Reis-Filho JS, Ellis IO. Basal-like breast cancer: a critical review. J Clin Oncol. 2008;26(15):2568-81. doi:10.1200/JCO.2007.13.1748
  2. Rakha EA, Ellis IO. Triple-negative/basal-like breast cancer: review. Pathology. 2009;41(1):40-7.
  3. Lerma E, Barnadas A, Prat J. Triple negative breast carcinomas: similarities and differences with basal like carcinomas. Appl Immunohistochem Mol Morphol. 2009;17(6):483-94.
  4. Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, et al. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res. 2004;10(16):5367-74.
  5. Livasy CA, Karaca G, Nanda R, Tretiakova MS, Olopade OI, Moore DT, et al. Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma. Mod Pathol. 2006;19(2):264-71. doi:10.1038/modpathol.3800528
  6. Li X, Yang J, Peng L, Sahin AA, Huo L, Ward KC, et al. Triple-negative breast cancer has worse overall survival and cause-specific survival than non-triple-negative breast cancer. Breast Cancer Res Treat. 2017;161(2):279-87. doi:10.1007/s10549-016-4059-6
  7. Lehmann BD, Bauer JA, Chen X, Sanders ME, Chakravarthy AB, Shyr Y, et al. Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies. J Clin Invest. 2011;121(7):2750-67. doi:10.1172/JCI45014
  8. Geyer FC, Pareja F, Weigelt B, Rakha E, Ellis IO, Schnitt SJ, et al. The spectrum of triple-negative breast disease: high- and low-grade lesions. Am J Pathol. 2017;187(10):2139-51. doi:10.1016/j.ajpath.2017.03.016
  9. Cserni G, Quinn CM, Foschini MP, Bianchi S, Callagy G, Chmielik E, et al. Triple-negative breast cancer histological subtypes with a favourable prognosis. Cancers (Basel). 2021;13(22):5694. doi:10.3390/cancers13225694
  10. Cima L, Kaya H, Marchiò C, Nishimura R, Wen HY, Fabbri VP, et al. Triple-negative breast carcinomas of low malignant potential: review on diagnostic criteria and differential diagnoses. Virchows Arch. 2022;480(1):109-26. doi:10.1007/s00428-021-03174-7
  11. Srivastava TP, Dhar R, Karmakar S. Looking beyond the ER, PR, and HER2: what's new in the ARsenal for combating breast cancer? Reprod Biol Endocrinol. 2025;23(1):9. doi:10.1186/s12958-024-01338-z
  12. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70. doi:10.1038/nature11412
  13. Allison KH, Hammond MEH, Dowsett M, McKernin SE, Carey LA, Fitzgibbons PL, et al. Estrogen and progesterone receptor testing in breast cancer: ASCO/CAP guideline update. J Clin Oncol. 2020;38(12):1346-66. doi:10.1200/JCO.19.02309
  14. Chen HL, Huang FB, Chen Q, Deng YC. Impact of estrogen receptor expression level on response to neoadjuvant chemotherapy and prognosis in HER2-negative breast cancers. BMC Cancer. 2023;23(1):841. doi:10.1186/s12885-023-11368-2
  15. WHO Classification of Tumours Editorial Board. Breast tumours. 6th ed. Lyon (France): International Agency for Research on Cancer; 2025. (WHO classification of tumours series).

16Imunologia tumoral: TILs, PD-L1 e outros

  1. Salgado R, Denkert C, Demaria S, Sirtaine N, Klauschen F, Pruneri G, et al. The evaluation of tumor-infiltrating lymphocytes (TILs) in breast cancer: recommendations by an International TILs Working Group 2014. Ann Oncol. 2015;26(2):259-71. doi:10.1093/annonc/mdu450
  2. Loi S, Michiels S, Adams S, Loibl S, Budczies J, Denkert C, et al. The journey of tumor-infiltrating lymphocytes as a biomarker in breast cancer: clinical utility in an era of checkpoint inhibition. Ann Oncol. 2021;32(10):1236-44. doi:10.1016/j.annonc.2021.07.007
  3. Denkert C, von Minckwitz G, Darb-Esfahani S, Lederer B, Heppner BI, Weber KE, et al. Tumour-infiltrating lymphocytes and prognosis in different subtypes of breast cancer: a pooled analysis of 3771 patients treated with neoadjuvant therapy. Lancet Oncol. 2018;19(1):40-50. doi:10.1016/S1470-2045(17)30904-X
  4. Park JH, Jonas SF, Bataillon G, Criscitiello C, Salgado R, Loi S, et al. Prognostic value of tumor-infiltrating lymphocytes in patients with early-stage triple-negative breast cancers (TNBC) who did not receive adjuvant chemotherapy. Ann Oncol. 2019;30(12):1941-9. doi:10.1093/annonc/mdz395
  5. Leon-Ferre RA, Jonas SF, Salgado R, Loi S, de Jong V, Carter JM, et al. Tumor-infiltrating lymphocytes in triple-negative breast cancer. JAMA. 2024;331(13):1135-44. doi:10.1001/jama.2024.3056
  6. Ignatiadis M, Van den Eynden G, Roberto S, Fornili M, Bareche Y, Desmedt C, et al. Tumor-infiltrating lymphocytes in patients receiving trastuzumab/pertuzumab-based chemotherapy: a TRYPHAENA substudy. J Natl Cancer Inst. 2019;111(1):69-77. doi:10.1093/jnci/djy076
  7. Amgad M, Stovgaard ES, Balslev E, Thagaard J, Chen W, Dudgeon S, et al. Report on computational assessment of tumor infiltrating lymphocytes from the International Immuno-Oncology Biomarker Working Group. NPJ Breast Cancer. 2020;6:16. doi:10.1038/s41523-020-0154-2
  8. Thagaard J, Broeckx G, Page DB, Jahangir CA, Verbandt S, Kos Z, et al. Pitfalls in machine learning-based assessment of tumor-infiltrating lymphocytes in breast cancer: a report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer. J Pathol. 2023;260(5):498-513. doi:10.1002/path.6155
  9. Doroshow DB, Bhalla S, Beasley MB, Sholl LM, Kerr KM, Gnjatic S, et al. PD-L1 as a biomarker of response to immune-checkpoint inhibitors. Nat Rev Clin Oncol. 2021;18(6):345-62. doi:10.1038/s41571-021-00473-5
  10. Licata L, Mariani M, Rossari F, Viale G, Notini G, Naldini MM, et al. Tissue- and liquid biopsy-based biomarkers for immunotherapy in breast cancer. Breast. 2023;69:330-41. doi:10.1016/j.breast.2023.03.014
  11. Rayson VC, Harris MA, Savas P, Hun ML, Virassamy B, Salgado R, et al. The anti-cancer immune response in breast cancer: current and emerging biomarkers and treatments. Trends Cancer. 2024;10(6):490-506. doi:10.1016/j.trecan.2024.02.008
  12. Loi S, Salgado R, Curigliano G, Romero Díaz RI, Delaloge S, Rojas García CI, et al. Neoadjuvant nivolumab and chemotherapy in early estrogen receptor-positive breast cancer: a randomized phase 3 trial. Nat Med. 2025;31(2):433-41. doi:10.1038/s41591-024-03414-8
  13. Barroso-Sousa R, Jain E, Cohen O, Kim D, Buendia-Buendia J, Winer E, et al. Prevalence and mutational determinants of high tumor mutation burden in breast cancer. Ann Oncol. 2020;31(3):387-94. doi:10.1016/j.annonc.2019.11.010
  14. Barroso-Sousa R, Keenan TE, Pernas S, Exman P, Jain E, Garrido-Castro AC, et al. Tumor mutational burden and PTEN alterations as molecular correlates of response to PD-1/L1 blockade in metastatic triple-negative breast cancer. Clin Cancer Res. 2020;26(11):2565-72. doi:10.1158/1078-0432.CCR-19-3507
  15. Karn T, Denkert C, Weber KE, Holtrich U, Hanusch C, Sinn BV, et al. Tumor mutational burden and immune infiltration as independent predictors of response to neoadjuvant immune checkpoint inhibition in early TNBC in GeparNuevo. Ann Oncol. 2020;31(9):1216-22. doi:10.1016/j.annonc.2020.05.015
  16. Vega DM, Yee LM, McShane LM, Williams PM, Chen L, Vilimas T, et al. Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project. Ann Oncol. 2021;32(12):1626-36. doi:10.1016/j.annonc.2021.09.016
  17. Ott PA, Bang YJ, Piha-Paul SA, Razak ARA, Bennouna J, Soria JC, et al. T-cell-inflamed gene-expression profile, programmed death ligand 1 expression, and tumor mutational burden predict efficacy in patients treated with pembrolizumab across 20 cancers: KEYNOTE-028. J Clin Oncol. 2019;37(4):318-27. doi:10.1200/JCO.2018.78.2276
  18. Curigliano G, Burstein HJ, Winer EP, Gnant M, Dubsky P, Loibl S, et al. De-escalating and escalating treatments for early-stage breast cancer: the St. Gallen International Expert Consensus Conference on the Primary Therapy of Early Breast Cancer 2017. Ann Oncol. 2017;28(8):1700-12. doi:10.1093/annonc/mdx308
  19. Ellis I, Webster F, Allison KH, Dang C, Gobbi H, Kulka J, et al. Dataset for reporting of the invasive carcinoma of the breast: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;85(3):418-36. doi:10.1111/his.15191

17Testes multigênicos

  1. Sparano JA, Gray RJ, Makower DF, Pritchard KI, Albain KS, Hayes DF, et al. Adjuvant chemotherapy guided by a 21-gene expression assay in breast cancer. N Engl J Med. 2018;379(2):111-21. doi:10.1056/NEJMoa1804710
  2. Kalinsky K, Barlow WE, Gralow JR, Meric-Bernstam F, Albain KS, Hayes DF, et al. 21-gene assay to inform chemotherapy benefit in node-positive breast cancer. N Engl J Med. 2021;385(25):2336-47. doi:10.1056/NEJMoa2108873
  3. Cardoso F, van't Veer LJ, Bogaerts J, Slaets L, Viale G, Delaloge S, et al. 70-gene signature as an aid to treatment decisions in early-stage breast cancer. N Engl J Med. 2016;375(8):717-29. doi:10.1056/NEJMoa1602253
  4. Sparano JA, Crager MR, Tang G, Gray RJ, Stemmer SM, Shak S. Development and validation of a tool integrating the 21-gene recurrence score and clinical-pathological features to individualize prognosis and prediction of chemotherapy benefit in early breast cancer. J Clin Oncol. 2021;39(6):557-64. doi:10.1200/JCO.20.03007
  5. Pusztai L, Hoag JR, Albain KS, Barlow WE, Stemmer SM, Meisner A, et al. Development and validation of the RSClinN+ tool to predict prognosis and chemotherapy benefit for hormone receptor-positive, node-positive breast cancer. J Clin Oncol. 2025;43(8):919-28. doi:10.1200/JCO-24-01507
  6. Piccart MJ, Kalinsky K, Gray R, Barlow WE, Poncet C, Cardoso F, et al. Gene expression signatures for tailoring adjuvant chemotherapy of luminal breast cancer: stronger evidence, greater trust. Ann Oncol. 2021;32(9):1077-82. doi:10.1016/j.annonc.2021.05.804
  7. Pan H, Gray R, Braybrooke J, Davies C, Taylor C, McGale P, et al. 20-year risks of breast-cancer recurrence after stopping endocrine therapy at 5 years. N Engl J Med. 2017;377(19):1836-46. doi:10.1056/NEJMoa1701830
  8. Bhargava R, Clark BZ, Dabbs DJ. Breast cancers with Magee equation score of less than 18, or 18-25 and mitosis score of 1, do not require Oncotype DX testing: a value study. Am J Clin Pathol. 2019;151(3):316-23. doi:10.1093/ajcp/aqy148
  9. Bhargava R, Dabbs DJ. The story of the Magee equations: the ultimate in applied immunohistochemistry. Appl Immunohistochem Mol Morphol. 2023;31(7):490-9. doi:10.1097/PAI.0000000000001065
  10. Mooghal M, Khan MAA, Samar MR, Shaikh H, Valimohammad AT, Idrees R, et al. Association between Ki-67 proliferative index and Oncotype-Dx recurrence score in hormone receptor-positive, HER2-negative early breast cancers: a systematic review of the literature. Breast Cancer (Auckl). 2024;18:11782234241255211. doi:10.1177/11782234241255211
  11. Giuliano AE, Connolly JL, Edge SB, Mittendorf EA, Rugo HS, Solin LJ, et al. Breast cancer — major changes in the American Joint Committee on Cancer eighth edition cancer staging manual. CA Cancer J Clin. 2017;67(4):290-303. doi:10.3322/caac.21393
  12. Loibl S, André F, Bachelot T, Barrios CH, Bergh J, Burstein HJ, et al. Early breast cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2024;35(2):159-82. doi:10.1016/j.annonc.2023.11.016
  13. Wirapati P, Sotiriou C, Kunkel S, Farmer P, Pradervand S, Haibe-Kains B, et al. Meta-analysis of gene expression profiles in breast cancer: toward a unified understanding of breast cancer subtyping and prognosis signatures. Breast Cancer Res. 2008;10(4):R65. doi:10.1186/bcr2124

18Avaliação após terapia neoadjuvante

  1. Bossuyt V, Provenzano E, Symmans WF, Webster F, Allison KH, Dang C, et al. A dedicated structured data set for reporting of invasive carcinoma of the breast in the setting of neoadjuvant therapy: recommendations from the International Collaboration on Cancer Reporting (ICCR). Histopathology. 2024;84(7):1111-29. doi:10.1111/his.15165
  2. Provenzano E, Bossuyt V, Viale G, Cameron D, Badve S, Denkert C, et al. Standardization of pathologic evaluation and reporting of postneoadjuvant specimens in clinical trials of breast cancer: recommendations from an international working group. Mod Pathol. 2015;28(9):1185-201. doi:10.1038/modpathol.2015.74
  3. Cortazar P, Zhang L, Untch M, Mehta K, Costantino JP, Wolmark N, et al. Pathological complete response and long-term clinical benefit in breast cancer: the CTNeoBC pooled analysis. Lancet. 2014;384(9938):164-72. doi:10.1016/S0140-6736(13)62422-8
  4. Symmans WF, Peintinger F, Hatzis C, Rajan R, Kuerer H, Valero V, et al. Measurement of residual breast cancer burden to predict survival after neoadjuvant chemotherapy. J Clin Oncol. 2007;25(28):4414-22. doi:10.1200/JCO.2007.10.6823
  5. Yau C, Osdoit M, van der Noordaa M, Shad S, Wei J, de Croze D, et al. Residual cancer burden after neoadjuvant chemotherapy and long-term survival outcomes in breast cancer: a multicentre pooled analysis of 5161 patients. Lancet Oncol. 2022;23(1):149-60. doi:10.1016/S1470-2045(21)00589-1
  6. Cserni G, Brogi E, Cody HS, Deb R, Farshid G, O'Toole S, et al. Reporting of surgically removed lymph nodes for breast tumors: recommendations from the International Collaboration on Cancer Reporting. Arch Pathol Lab Med. 2022;146(11):1308-18. doi:10.5858/arpa.2022-0060-RA
  7. Thomas JS, Julian HS, Green RV, Cameron DA, Dixon MJ. Histopathology of breast carcinoma following neoadjuvant systemic therapy: a common association between letrozole therapy and central scarring. Histopathology. 2007;51(2):219-26. doi:10.1111/j.1365-2559.2007.02752.x
  8. Rabban JT, Glidden D, Kwan ML, Chen YY. Pure and predominantly pure intralymphatic breast carcinoma after neoadjuvant chemotherapy: an unusual and adverse pattern of residual disease. Am J Surg Pathol. 2009;33(2):256-63. doi:10.1097/PAS.0b013e31817fbdb4
  9. Guilbert MC, Overmoyer B, Lester SC. Pure intralymphatic invasion in the absence of stromal invasion after neoadjuvant therapy: a rare pattern of residual breast carcinoma. Am J Surg Pathol. 2018;42(5):679-86. doi:10.1097/PAS.0000000000001029
  10. Zombori T, Ferenczi Á, Sejben A, Almási S, Szelestei V, Kószó R, et al. The prognostic value of histological grade determined after neoadjuvant chemotherapy of breast cancer. Pathol Res Pract. 2024;265:155732. doi:10.1016/j.prp.2024.155732
  11. von Minckwitz G, Huang CS, Mano MS, Loibl S, Mamounas EP, Untch M, et al. Trastuzumab emtansine for residual invasive HER2-positive breast cancer. N Engl J Med. 2019;380(7):617-28. doi:10.1056/NEJMoa1814017
  12. Masuda N, Lee SJ, Ohtani S, Im YH, Lee ES, Yokota I, et al. Adjuvant capecitabine for breast cancer after preoperative chemotherapy. N Engl J Med. 2017;376(22):2147-59. doi:10.1056/NEJMoa1612645
  13. Chen HL, Huang FB, Chen Q, Deng YC. Impact of estrogen receptor expression level on response to neoadjuvant chemotherapy and prognosis in HER2-negative breast cancers. BMC Cancer. 2023;23(1):841. doi:10.1186/s12885-023-11368-2
  14. Swarnkar PK, Tayeh S, Michell MJ, Mokbel K. The evolving role of marked lymph node biopsy (MLNB) and targeted axillary dissection (TAD) after neoadjuvant chemotherapy (NACT) for node-positive breast cancer: systematic review and pooled analysis. Cancers (Basel). 2021;13(7):1539. doi:10.3390/cancers13071539

19Genômica, alvos terapêuticos e biópsia líquida

  1. Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature. 2012;486(7403):400-4. doi:10.1038/nature11017
  2. Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD, Raine K, et al. Mutational processes molding the genomes of 21 breast cancers. Cell. 2012;149(5):979-93. doi:10.1016/j.cell.2012.04.024
  3. Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534(7605):47-54. doi:10.1038/nature17676
  4. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70. doi:10.1038/nature11412
  5. Houlahan KE, Mangiante L, Sotomayor-Vivas C, Adimoelja A, Park S, Khan A, et al. Complex rearrangements fuel ER+ and HER2+ breast tumours. Nature. 2025;638(8050):510-8. doi:10.1038/s41586-024-08377-x
  6. Tutt A, Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med. 2002;8(12):571-6. doi:10.1016/s1471-4914(02)02434-6
  7. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434(7035):917-21. doi:10.1038/nature03445
  8. Zardavas D, Te Marvelde L, Milne RL, Fumagalli D, Fountzilas G, Kotoula V, et al. Tumor PIK3CA genotype and prognosis in early-stage breast cancer: a pooled analysis of individual patient data. J Clin Oncol. 2018;36(10):981-90. doi:10.1200/JCO.2017.74.8301
  9. André F, Ciruelos E, Rubovszky G, Campone M, Loibl S, Rugo HS, et al. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer. N Engl J Med. 2019;380(20):1929-40. doi:10.1056/NEJMoa1813904
  10. Toy W, Shen Y, Won H, Green B, Sakr RA, Will M, et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet. 2013;45(12):1439-45. doi:10.1038/ng.2822
  11. Toy W, Weir H, Razavi P, Lawson M, Goeppert AU, Mazzola AM, et al. Activating ESR1 mutations differentially affect the efficacy of ER antagonists. Cancer Discov. 2017;7(3):277-87. doi:10.1158/2159-8290.CD-15-1523
  12. Jeselsohn R, Buchwalter G, De Angelis C, Brown M, Schiff R. ESR1 mutations — a mechanism for acquired endocrine resistance in breast cancer. Nat Rev Clin Oncol. 2015;12(10):573-83. doi:10.1038/nrclinonc.2015.117
  13. Schiavon G, Hrebien S, Garcia-Murillas I, Cutts RJ, Pearson A, Tarazona N, et al. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer. Sci Transl Med. 2015;7(313):313ra182. doi:10.1126/scitranslmed.aac7551
  14. Bidard FC, Kaklamani VG, Neven P, Streich G, Montero AJ, Forget F, et al. Elacestrant (oral selective estrogen receptor degrader) versus standard endocrine therapy for estrogen receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer: results from the randomized phase III EMERALD trial. J Clin Oncol. 2022;40(28):3246-56. doi:10.1200/JCO.22.00338
  15. Burstein HJ, DeMichele A, Somerfield MR, Henry NL. Testing for ESR1 mutations to guide therapy for hormone receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer: ASCO guideline rapid recommendation update. J Clin Oncol. 2023;41(18):3423-5. doi:10.1200/JCO.23.00638
  16. Nardone A, De Angelis C, Trivedi MV, Osborne CK, Schiff R. The changing role of ER in endocrine resistance. Breast. 2015;24 Suppl 2:S60-6. doi:10.1016/j.breast.2015.07.015
  17. Hanker AB, Sudhan DR, Arteaga CL. Overcoming endocrine resistance in breast cancer. Cancer Cell. 2020;37(4):496-513. doi:10.1016/j.ccell.2020.03.009
  18. Alix-Panabières C, Pantel K. Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy. Cancer Discov. 2016;6(5):479-91. doi:10.1158/2159-8290.CD-15-1483
  19. Pascual J, Attard G, Bidard FC, Curigliano G, De Mattos-Arruda L, Diehn M, et al. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2022;33(8):750-68. doi:10.1016/j.annonc.2022.05.520
  20. Aftimos P, Oliveira M, Irrthum A, Fumagalli D, Sotiriou C, Gal-Yam EN, et al. Genomic and transcriptomic analyses of breast cancer primaries and matched metastases in AURORA, the Breast International Group (BIG) Molecular Screening Initiative. Cancer Discov. 2021;11(11):2796-811. doi:10.1158/2159-8290.CD-20-1647
  21. Li A, Schleicher SM, Andre F, Mitri ZI. Genomic alteration in metastatic breast cancer and its treatment. Am Soc Clin Oncol Educ Book. 2020;40:1-14. doi:10.1200/EDBK_280463
  22. Modi S, Jacot W, Yamashita T, Sohn J, Vidal M, Tokunaga E, et al. Trastuzumab deruxtecan in previously treated HER2-low advanced breast cancer. N Engl J Med. 2022;387(1):9-20. doi:10.1056/NEJMoa2203690
  23. Bardia A, Hu X, Dent R, Yonemori K, Barrios CH, O'Shaughnessy JA, et al. Trastuzumab deruxtecan after endocrine therapy in metastatic breast cancer. N Engl J Med. 2024;391(22):2110-22. doi:10.1056/NEJMoa2407086
  24. Barroso-Sousa R, Jain E, Cohen O, Kim D, Buendia-Buendia J, Winer E, et al. Prevalence and mutational determinants of high tumor mutation burden in breast cancer. Ann Oncol. 2020;31(3):387-94. doi:10.1016/j.annonc.2019.11.010

20Patologia digital e inteligência artificial

  1. Soliman A, Li Z, Parwani AV. Artificial intelligence's impact on breast cancer pathology: a literature review. Diagn Pathol. 2024;19(1):38. doi:10.1186/s13000-024-01453-w
  2. Pantanowitz L, Hartman D, Qi Y, Cho EY, Suh B, Paeng K, et al. Accuracy and efficiency of an artificial intelligence tool when counting breast mitoses. Diagn Pathol. 2020;15(1):80. doi:10.1186/s13000-020-00995-z
  3. Ibrahim A, Lashen A, Toss M, Mihai R, Rakha E. Assessment of mitotic activity in breast cancer: revisited in the digital pathology era. J Clin Pathol. 2022;75(6):365-72. doi:10.1136/jclinpath-2021-207742
  4. Amgad M, Stovgaard ES, Balslev E, Thagaard J, Chen W, Dudgeon S, et al. Report on computational assessment of tumor infiltrating lymphocytes from the International Immuno-Oncology Biomarker Working Group. NPJ Breast Cancer. 2020;6:16. doi:10.1038/s41523-020-0154-2
  5. Thagaard J, Broeckx G, Page DB, Jahangir CA, Verbandt S, Kos Z, et al. Pitfalls in machine learning-based assessment of tumor-infiltrating lymphocytes in breast cancer: a report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer. J Pathol. 2023;260(5):498-513. doi:10.1002/path.6155
  6. Boissin C, Wang Y, Sharma A, Weitz P, Karlsson E, Robertson S, et al. Deep learning-based risk stratification of preoperative breast biopsies using digital whole slide images. Breast Cancer Res. 2024;26(1):90. doi:10.1186/s13058-024-01840-7
  7. Sharma A, Lövgren SK, Eriksson KL, Wang Y, Robertson S, Hartman J, et al. Validation of an AI-based solution for breast cancer risk stratification using routine digital histopathology images. Breast Cancer Res. 2024;26(1):123. doi:10.1186/s13058-024-01879-6
  8. Wilson ML, Fleming KA, Kuti MA, Looi LM, Lago N, Ru K. Access to pathology and laboratory medicine services: a crucial gap. Lancet. 2018;391(10133):1927-38. doi:10.1016/S0140-6736(18)30458-6
  9. Bhargava R, Dabbs DJ. The story of the Magee equations: the ultimate in applied immunohistochemistry. Appl Immunohistochem Mol Morphol. 2023;31(7):490-9. doi:10.1097/PAI.0000000000001065
  10. Mooghal M, Khan MAA, Samar MR, Shaikh H, Valimohammad AT, Idrees R, et al. Association between Ki-67 proliferative index and Oncotype-Dx recurrence score in hormone receptor-positive, HER2-negative early breast cancers: a systematic review of the literature. Breast Cancer (Auckl). 2024;18:11782234241255211. doi:10.1177/11782234241255211
  11. Nielsen TO, Leung SCY, Rimm DL, Dodson A, Acs B, Badve S, et al. Assessment of Ki67 in breast cancer: updated recommendations from the International Ki67 in Breast Cancer Working Group. J Natl Cancer Inst. 2021;113(7):808-19. doi:10.1093/jnci/djaa201

Manual de patologia mamária · Dr. Roberto Falzoni · Apêndice D.