Khuyến nghị Hướng dẫn của Hiệp hội Ung thư lâm sàng Hoa Kỳ/Cao đẳng Bác sĩ Giải phẫu về Kiểm tra Receptor yếu tố tăng trưởng biểu bì người loại 2 trong Ung thư vú
Tóm tắt
Mục tiêu.—Phát triển một hướng dẫn nhằm cải thiện độ chính xác của kiểm tra receptor yếu tố tăng trưởng biểu bì người loại 2 (HER2) trong ung thư vú xâm lấn và giá trị dự đoán của nó như một dấu hiệu dự đoán.
Phương pháp.—Hiệp hội Ung thư lâm sàng Hoa Kỳ và Cao đẳng Bác sĩ Giải phẫu (CAP) đã triệu tập một nhóm chuyên gia, tiến hành đánh giá hệ thống tài liệu và phát triển các khuyến nghị cho hiệu suất kiểm tra HER2 tối ưu. Hướng dẫn đã được các chuyên gia được chọn xem xét và được phê duyệt bởi ban giám đốc của cả hai tổ chức.
Kết quả.—Khoảng 20% kiểm tra HER2 hiện tại có thể không chính xác. Khi kiểm tra được xác nhận một cách cẩn thận được thực hiện, dữ liệu hiện có không minh chứng rõ ràng về sự vượt trội của phương pháp nhuộm miễn dịch (IHC) hoặc lai ghép tại chỗ (ISH) như một yếu tố dự đoán lợi ích từ liệu pháp chống HER2.
Khuyến nghị.—Nhóm chuyên gia khuyến nghị rằng tình trạng HER2 nên được xác định cho tất cả bệnh nhân ung thư vú xâm lấn. Một thuật toán kiểm tra dựa trên hiệu suất thử nghiệm chính xác, có thể tái sản xuất, bao gồm các loại ISH mới có sẵn, được đề xuất. Các yếu tố nhằm giảm thiểu đáng tin cậy biến đổi thử nghiệm (chẳng hạn như xử lý mẫu, loại trừ thử nghiệm và tiêu chí báo cáo) được xác định. Một thuật toán định nghĩa các giá trị dương tính, không chắc chắn và âm tính cho cả biểu hiện protein HER2 và khuếch đại gen được khuyến nghị: một kết quả HER2 dương tính là nhuộm IHC 3+ (nhuộm màng đồng nhất, mạnh mẽ của > 30% tế bào khối u xâm lấn), một kết quả lai ghép tại chỗ huỳnh quang (FISH) là hơn 6 bản sao gen HER2 mỗi nhân, hoặc tỷ lệ FISH (tín hiệu gen HER2 so với tín hiệu nhiễm sắc thể 17) hơn 2.2; một kết quả âm tính là nhuộm IHC 0 hoặc 1+, một kết quả FISH ít hơn 4.0 bản sao gen HER2 cho mỗi nhân, hoặc tỷ lệ FISH ít hơn 1.8. Các kết quả không chắc chắn yêu cầu hành động bổ sung để xác định cuối cùng. Được khuyến nghị rằng để thực hiện kiểm tra HER2, các phòng thí nghiệm cần đạt được độ đồng thuận 95% với một bài kiểm tra đã xác nhận khác cho các giá trị thử nghiệm dương tính và âm tính. Nhóm chuyên gia mạnh mẽ khuyến nghị xác minh thử nghiệm phòng thí nghiệm hoặc điều chỉnh, sử dụng quy trình hoạt động chuẩn hóa và tuân thủ các tiêu chí thử nghiệm mới được giám sát bởi việc sử dụng các tiêu chuẩn công nhận phòng thí nghiệm nghiêm ngặt, kiểm tra năng lực, và đánh giá năng lực. Nhóm chuyên gia khuyến nghị rằng kiểm tra HER2 nên được thực hiện trong một phòng thí nghiệm được cấp phép bởi CAP hoặc một phòng thí nghiệm đáp ứng các yêu cầu về công nhận và kiểm tra năng lực do tài liệu này đặt ra.
Từ khóa
Tài liệu tham khảo
Slamon, 1987, Human breast cancer: Correlation of relapse and survival with amplification of the HER-2/neu oncogene., Science, 235, 177, 10.1126/science.3798106
NCBI: PubMed. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=full_report&list_uids=2064.
Akiyama, 1986, The product of the human c-erbB-2 gene: A 185-kilodalton glycoprotein with tyrosine kinase activity., Science, 232, 1644, 10.1126/science.3012781
Press, 1993, Her-2/neu expression in node-negative breast cancer: Direct tissue quantitation by computerized image analysis and association of overexpression with increased risk of recurrent disease., Cancer Res, 53, 4960
Press, 1997, HER-2/neu gene amplification characterized by fluorescence in situ hybridization: Poor prognosis in node-negative breast carcinomas., J Clin Oncol, 15, 2894, 10.1200/JCO.1997.15.8.2894
Yamauchi, 2001, When is a tumor marker ready for prime time? A case study of c-erbB-2 as a predictive factor in breast cancer., J Clin Oncol, 19, 2334, 10.1200/JCO.2001.19.8.2334
Konecny, 2003, Quantitative association between HER-2/neu and steroid hormone receptors in hormone receptor-positive primary breast cancer., J Natl Cancer Inst, 95, 142, 10.1093/jnci/95.2.142
Ellis, 2001, Letrozole is more effective neoadjuvant endocrine therapy than tamoxifen for ErbB-1- and/or ErbB-2-positive, estrogen receptor-positive primary breast cancer: Evidence from a phase III randomized trial., J Clin Oncol, 19, 3808, 10.1200/JCO.2001.19.18.3808
Menard, 2001, Response to cyclophosphamide, methotrexate, and fluorouracil in lymph node-positive breast cancer according to HER2 overexpression and other tumor biologic variables., J Clin Oncol, 19, 329, 10.1200/JCO.2001.19.2.329
Thor, 1998, ErbB-2, p53, and efficacy of adjuvant therapy in lymph node-positive breast cancer., J Natl Cancer Inst, 90, 1346, 10.1093/jnci/90.18.1346
Pritchard, 2006, HER2 and responsiveness of breast cancer to adjuvant chemotherapy., N Engl J Med, 354, 2103, 10.1056/NEJMoa054504
Cardoso, 2004, Correlation between complete response to anthracycline-based chemotherapy and topoisomerase ll-alpha gene amplification and protein overexpression in locally advanced/metastatic breast cancer., Int J Oncol, 24, 201
Villman, 2006, TOP2A and HER2 gene amplification as predictors of response to anthracycline treatment in breast cancer., Acta Oncol, 45, 590, 10.1080/02841860500543182
Konecny, 2004, Her-2/neu gene amplification and response to paclitaxel in patients with metastatic breast cancer., J Natl Cancer Inst, 96, 1141, 10.1093/jnci/djh198
Hayes, 2006, HER2 predicts benefit from adjuvant paclitaxel after AC in node-positive breast cancer: CALGB 9344., J Clin Oncol, 24, 5S, 10.1200/jco.2006.24.18_suppl.510
Slamon, 2001, Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2., N Engl J Med, 344, 783, 10.1056/NEJM200103153441101
Cobleigh, 1999, Multinational study of the efficacy and safety of humanized anti-HER2 monoclonal antibody in women who have HER2-overexpressing metastatic breast cancer that has progressed after chemotherapy for metastatic disease., J Clin Oncol, 17, 2639, 10.1200/JCO.1999.17.9.2639
Vogel, 2002, Efficacy and safety of trastuzumab as a single agent in first-line treatment of HER2-overexpressing metastatic breast cancer., J Clin Oncol, 20, 719, 10.1200/JCO.2002.20.3.719
Slamon, 2005, Phase III randomized trial comparing doxorubicin and cyclophosphamide followed by docetaxel (ACT) with doxorubicin and cyclophosphamide followed by docetaxel and trastuzumab (ACTH) with docetaxel, carboplatin and trastuzumab (TCH) in HER2 positive early breast cancer patients: BCIRG 006 study., Breast Cancer Res Treat, 94, S5
Joensuu, 2006, Adjuvant docetaxel or vinorelbine with or without trastuzumab for breast cancer., N Engl J Med, 354, 809, 10.1056/NEJMoa053028
Romond, 2005, Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer., N Engl J Med, 353, 1673, 10.1056/NEJMoa052122
Piccart-Gebhart, 2005, Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer., N Engl J Med, 353, 1659, 10.1056/NEJMoa052306
The Herceptin Adjuvant (HERA) Trial Study Team:, Trastuzumab following adjuvant chemotherapy in HER2-positive early stage breast cancer (HERA trial): Disease-free and overall survival after 2 year follow-up.
Geyer, A phase III randomized, open-label, international study comparing lapatinib and capecitabine vs. capecitabine in women with refractory advanced or metastatic breast cancer (EGF100151).
Slamon, 1989, Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer., Science, 244, 707, 10.1126/science.2470152
Mass, 2000, The concordance between the clinical trials assay (CTA) and fluorescence in situ hybridization (FISH) in the Herceptin pivotal trials., Proc Am Soc Clin Oncol, 19, 75a
Seidman, 2004, CALGB 9840: Phase III study of weekly (W) paclitaxel (P) via 1-hour (h) infusion versus standard (S) 3h infusion every third week in the treatment of metastatic breast cancer (MBC), with trastuzumab (T) for HER2 positive MBC and randomized for T in HER2 normal MBC., J Clin Oncol, 22, 6s, 10.1200/jco.2004.22.90140.512
Yaziji, HER-2 testing in breast cancer using parallel tissue-based methods., JAMA
Owens, 2004, HER2 amplification ratios by fluorescence in situ hybridization and correlation with immunohistochemistry in a cohort of 6556 breast cancer tissues., Clin Breast Cancer, 5, 63, 10.3816/CBC.2004.n.011
Paik, 2002, Real-world performance of HER2 testing—National Surgical Adjuvant Breast and Bowel Project experience., J Natl Cancer Inst, 94, 852, 10.1093/jnci/94.11.852
Perez, 2006, HER2 testing by local, central, and reference laboratories in specimens from the North Central Cancer Treatment Group N9831 Intergroup adjuvant trial., J Clin Oncol, 24, 3032, 10.1200/JCO.2005.03.4744
Isola, 2004, Interlaboratory comparison of HER-2 oncogene amplification as detected by chromogenic and fluorescence in situ hybridization., Clin Cancer Res, 10, 4793, 10.1158/1078-0432.CCR-0428-03
Press, 2005, Topoisomerase ll-alpha gene amplification as a predictor of responsiveness to anthracycline-containing chemotherapy in the Cancer International Research Group 006 clinical trial of trastuzumab (Herceptin) in the adjuvant setting., Breast Cancer Res Treat, 94, S54
Persons, 2006, HER-2 fluorescence in situ hybridization: Results from the survey program of the College of American Pathologists., Arch Pathol Lab Med, 130, 325, 10.5858/2006-130-325-HFISHR
Dal Lago, 2006, Correction for chromosome 17 is critical for determination of true Her-2/neu gene amplification status in breast cancer (BC)., Mol Cancer Ther, 5, 2572, 10.1158/1535-7163.MCT-06-0129
Vera-Roman, 2004, Comparative assays for the HER-2/neu oncogene status in breast cancer., Arch Pathol Lab Med, 128, 627, 10.5858/2004-128-627-CAFTNO
Hanna, 2006, Chromogenic in-situ hybridization: A viable alternative to fluorescence in-situ hybridization in the HER2 testing algorithm., Mod Pathol, 19, 481, 10.1038/modpathol.3800555
Downs-Kelly, 2005, Analytical validation and interobserver reproducibility of EnzMet GenePro: A second-generation bright-field metallography assay for concomitant detection of HER2 gene status and protein expression in invasive carcinoma of the breast., Am J Surg Pathol, 29, 1505, 10.1097/01.pas.0000172294.67409.4f
Bast, 2001, 2000 update of recommendations for the use of tumor markers in breast and colorectal cancer: Clinical practice guidelines of the American Society of Clinical Oncology., J Clin Oncol, 19, 1865, 10.1200/JCO.2001.19.6.1865
Roche, 2002, Concordance between local and central laboratory HER2 testing in the breast intergroup trial N9831., J Natl Cancer Inst, 94, 855, 10.1093/jnci/94.11.855
Gutman, 2002, Regulatory issues in tumor marker development., Semin Oncol, 29, 294, 10.1053/sonc.2002.33140
Hayes, 2006, Heart of darkness: The downside of trastuzumab., J Clin Oncol, 24, 4056, 10.1200/JCO.2006.07.5143
Tan-Chiu, 2005, Assessment of cardiac dysfunction in a randomized trial comparing doxorubicin and cyclophosphamide followed by paclitaxel, with or without trastuzumab as adjuvant therapy in node-positive, human epidermal growth factor receptor 2-overexpressing breast cancer: NSABP B-31., J Clin Oncol, 23, 7811, 10.1200/JCO.2005.02.4091
Perez, Exploratory analysis from NCCTG N9831: Do clinical and laboratory characteristics predict cardiac toxicity of trastuzumab when administered as a component of adjuvant therapy?
Geyer, 2006, Four year update of cardiac dysfunction on NSABP B-31: A randomized trial of AC->paclitaxel vs. AC-> paclitaxel with trastuzumab in HER2 positive, node positive operable breast cancer., J Clin Oncol, 24, 23S, 10.1200/jco.2006.24.18_suppl.581
Cell Markers and Cytogenetics Committees, College of American Pathologists:, 2002, Clinical laboratory assays for HER-2/neu amplification and overexpression: Quality assurance, standardization, and proficiency testing., Arch Pathol Lab Med, 126, 803, 10.5858/2002-126-0803-CLAFHN
Zarbo, 2003, Her-2/neu testing of breast cancer patients in clinical practice., Arch Pathol Lab Med, 127, 549, 10.5858/2003-127-0549-CSSSS
Ellis, 2004, Best practice No 176: Updated recommendations for HER2 testing in the UK., J Clin Pathol, 57, 233, 10.1136/jcp.2003.007724
Hanna, 2002, Updated recommendations from the HER2/neu consensus meeting., Current Oncology, 9, S18
Bilous, 2003, Current perspectives on HER2 testing: A review of national testing guidelines., Mod Pathol, 16, 173, 10.1097/01.MP.0000052102.90815.82
Fitzgibbons, 2000, Prognostic factors in breast cancer: College of American Pathologists Consensus Statement 1999., Arch Pathol Lab Med, 124, 966, 10.5858/2000-124-0966-PFIBC
Vincent-Salomon, 2003, Calibration of immunohistochemistry for assessment of HER2 in breast cancer: Results of the French multicentre GEFPICS study., Histopathology, 42, 337, 10.1046/j.1365-2559.2003.01598.x
Allred, 1992, HER-2/neu in node-negative breast cancer: Prognostic significance of overexpression influenced by the presence of in situ carcinoma., J Clin Oncol, 10, 599, 10.1200/JCO.1992.10.4.599
Tubbs, 2001, Discrepancies in clinical laboratory testing of eligibility for trastuzumab therapy: Apparent immunohistochemical false-positives do not get the message., J Clin Oncol, 19, 2714, 10.1200/JCO.2001.19.10.2714
Perez, 2002, HER2 testing in patients with breast cancer: Poor correlation between weak positivity by immunohistochemistry and gene amplification by fluorescence in situ hybridization., Mayo Clin Proc, 77, 148, 10.1016/S0025-6196(11)62329-X
Press, 2005, Diagnostic evaluation of HER-2 as a molecular target: An assessment of accuracy and reproducibility of laboratory testing in large, prospective, randomized clinical trials., Clin Cancer Res, 11, 6598, 10.1158/1078-0432.CCR-05-0636
Downs-Kelly, 2005, The influence of polysomy 17 on HER2 gene and protein expression in adenocarcinoma of the breast: A fluorescent in situ hybridization, immunohistochemical, and isotopic mRNA in situ hybridization study., Am J Surg Pathol, 29, 1221, 10.1097/01.pas.0000165528.78945.95
Ma, 2005, Polysomy 17 in HER-2/neu status elaboration in breast cancer: Effect on daily practice., Clin Cancer Res, 11, 4393, 10.1158/1078-0432.CCR-04-2256
Reddy, 2006, Concordance between central and local laboratory HER2 testing from a community-based clinical study., Clin Breast Cancer, 7, 153, 10.3816/CBC.2006.n.025
FDA/CBER: Clinical Review Briefing Document sBLA STN: 103792\5008\0 [Original BLA 98-0369] Trastuzumab. http://www.fda.gov/ohrms/dockets/ac/01/briefing/3815b1_08_HER2%20FISH.pdf.
Hammond, 2003, Standard reference material for Her2 testing: Report of a National Institute of Standards and Technology-sponsored consensus workshop., Appl Immunohistochem Mol Morphol, 11, 103, 10.1097/00129039-200306000-00001
Press, 2002, Evaluation of HER-2/neu gene amplification and overexpression: Comparison of frequently used assay methods in a molecularly characterized cohort of breast cancer specimens., J Clin Oncol, 20, 3095, 10.1200/JCO.2002.09.094
Hanna, 2002, Updated recommendations from the HER2/neu consensus meeting: Toronto, Ontario, 7 September 2001., Curr Oncol, 9, S18
Dowsett, 2003, Correlation between immunohistochemistry (HercepTest) and fluorescence in situ hybridization (FISH) for HER-2 in 426 breast carcinomas from 37 centres., J Pathol, 199, 418, 10.1002/path.1313
Taylor, 2000, The total test approach to standardization of immunohistochemistry., Arch Pathol Lab Med, 124, 945, 10.5858/2000-124-0945-TTTATS
Hicks, 2005, Assessment of the HER2 status in breast cancer by fluorescence in situ hybridization: A technical review with interpretive guidelines., Hum Pathol, 36, 250, 10.1016/j.humpath.2004.11.010
Fitzgibbons, 2006, Interlaboratory comparison of immunohistochemical testing for HER2: Results of the 2004 and 2005 College of American Pathologists HER2 immunohistochemistry tissue microarray survey., Arch Pathol Lab Med, 130, 1440, 10.5858/2006-130-1440-ICOITF
Rhodes, 2002, Evaluation of HER-2/neu immunohistochemical assay sensitivity and scoring on formalin-fixed and paraffin-processed cell lines and breast tumors: A comparative study involving results from laboratories in 21 countries., Am J Clin Pathol, 118, 408, 10.1309/97WN-W6UX-XJWT-02H2
O'Malley, 2003, HER2 status: A Canadian experience of concordance between central and local testing laboratories., Breast Cancer Res Treat, 82, 305
Henson, 1995, College of American Pathologists Conference XXVI on clinical relevance of prognostic markers in solid tumors., Arch Pathol Lab Med, 119, 1109
Carlson, 2006, HER2 testing in breast cancer: NCCN Task Force report and recommendations., J Natl Compr Cane Netw, 4, S1
Zarbo, 2002, Q-Tracks: A College of American Pathologists program of continuous laboratory monitoring and longitudinal performance tracking., Arch Pathol Lab Med, 126, 1036, 10.5858/2002-126-1036-QT
Dako A/S G, Denmark:, HercepTest package insert.
Carlson, 2005, Breast cancer., J Natl Compr Canc Netw, 3, 238
Perez, 2004, HER2 testing by local, central, and reference laboratories in the NCCTG N9831 Intergroup adjuvant trial., J Clin Oncol, 22, 567, 10.1200/jco.2004.22.90140.567
Mass, 2005, Evaluation of clinical outcomes according to HER2 detection by fluorescence in situ hybridization in women with metastatic breast cancer treated with trastuzumab., Clin Breast Cancer, 6, 240, 10.3816/CBC.2005.n.026
Bartlett, 2001, Evaluating HER2 amplification and overexpression in breast cancer., J Pathol, 195, 422, 10.1002/path.971
Dybdal, 2005, Determination of HER2 gene amplification by fluorescence in situ hybridization and concordance with the clinical trials immunohistochemical assay in women with metastatic breast cancer evaluated for treatment with trastuzumab., Breast Cancer Res Treat, 93, 3, 10.1007/s10549-004-6275-8
Masood, 2000, Assessment of Her-2/neu overexpression in primary breast cancers and their metastatic lesions: An immunohistochemical study., Ann Clin Lab Sci, 30, 259
Simon, 2001, Patterns of HER-2/neu amplification and overexpression in primary and metastatic breast cancer., J Natl Cancer Inst, 93, 1141, 10.1093/jnci/93.15.1141
Hammond, 2002, Issues and barriers to development of clinically useful tumor markers: A development pathway proposal., Semin Oncol, 29, 213, 10.1053/sonc.2002.32896
Rhodes, 2004, The use of cell line standards to reduce HER-2/neu assay variation in multiple European cancer centers and the potential of automated image analysis to provide for more accurate cut points for predicting clinical response to trastuzumab., Am J Clin Pathol, 122, 51, 10.1309/E9B55JYHD84L8Y17
Gulmann, 2004, Miniature tissue microarrays for HercepTest standardisation and analysis., J Clin Pathol, 57, 1229, 10.1136/jcp.2004.018689
Wick, 2002, Targeted controls in clinical immunohistochemistry: A useful approach to quality assurance., Am J Clin Pathol, 117, 7, 10.1309/7LQJ-LQQ0-JHYH-Y8U2
Moskaluk, 2002, Standardization of clinical immunohistochemistry: Why, how, and by whom?, Am J Clin Pathol, 118, 669, 10.1309/KM95-6LVL-UNLB-R3RH
Bloom, 2004, Enhanced accuracy and reliability of HER-2/neu immunohistochemical scoring using digital microscopy., Am J Clin Pathol, 121, 620, 10.1309/Y73U8X72B68TMGH5
Wang, 2001, Assessment of HER-2/neu status in breast cancer: Automated cellular imaging system (ACIS)-assisted quantitation of immunohistochemical assay achieves high accuracy in comparison with fluorescence in situ hybridization assay as the standard., Am J Clin Pathol, 116, 495, 10.1309/TMUW-G4WB-LXJ2-FUDN
US Food and Drug Administration:, Clinical Laboratory Improvement Amendments.
Dowsett, HER-2 testing in the UK: Consensus from a national consultation.