HER2 in breast cancer: A review and update

Advances in Anatomic Pathology

Volumn 21, Issue 2, 2014, Pages 100-107

  Krishnamurti, Uma ^a   Silverman, Jan F ^a  

^a ALLEGHENY GENERAL HOSPITAL   (United States)

Author keywords

ASCO guidelines; Breast cancer; HER2

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; TAMOXIFEN; TRASTUZUMAB;

BIOLOGICAL ACTIVITY; BREAST CANCER; BREAST METASTASIS; CANCER CLASSIFICATION; CANCER DIAGNOSIS; CANCER GROWTH; CANCER PROGNOSIS; CANCER RECURRENCE; CANCER THERAPY; CELL PROLIFERATION; CELL SURVIVAL; CENTROMERE; CHROMOGENIC IN SITU HYBRIDIZATION; CHROMOSOME 17Q; CLINICAL PATHWAY; CLINICAL TRIAL (TOPIC); FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; HISTOPATHOLOGY; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MOLECULARLY TARGETED THERAPY; MULTICENTER STUDY (TOPIC); NONHUMAN; ONCOGENE; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PREDICTIVE VALUE; PRIORITY JOURNAL; REVIEW; SILVER IN SITU HYBRIDIZATION;

ANIMALS; ANTINEOPLASTIC AGENTS; BREAST NEOPLASMS; DRUG DESIGN; FEMALE; GENE AMPLIFICATION; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; INDIVIDUALIZED MEDICINE; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR TARGETED THERAPY; PREDICTIVE VALUE OF TESTS; PROTEIN KINASE INHIBITORS; RECEPTOR, ERBB-2; SIGNAL TRANSDUCTION; TREATMENT OUTCOME; TUMOR MARKERS, BIOLOGICAL; UP-REGULATION;

EID: 84898764219     PISSN: 10724109     EISSN: 15334031     Source Type: Journal    
DOI: 10.1097/PAP.0000000000000015     Document Type: Review

References (80)

1. Popescu NC, King CR, Kraus MH. Localization of the human erbB-2 gene on normal and rearranged chromosomes 17 to bands q12-21.32. Genomics. 1989;4:362-366.
2. Shih C, Padhy LC, Murray M, et al. Transforming genes of carcinomas and neuroblastomas introduced into mouse fibroblasts. Nature. 1981;290:261-264.
3. King CR, Kraus MH, Aaronson SA. Amplification of a novel v-erbB-related gene in a human mammary carcinoma. Science. 1985;229:974-976.
4. Akiyama T, Sudo C, Ogawara H, et al. The product of the human c-erbB-2 gene: A 185-kilodalton glycoprotein with tyrosine kinase activity. Science. 1986;232:1644-1646.
5. Moasser MM. The oncogene HER2: its signaling and transforming functions and its role in human cancer pathogenesis. Oncogene. 2007;26:6469-6487.
6. Cho HS, Mason K, Ramyar KX, et al. Structure of the extracellular region of HER2 alone and in complex with theHerceptin Fab. Nature. 2003;421:756-760.
7. Ross JS, Slodkowska EA, Symmans WF, et al. The HER-2 receptor and breast cancer: ten years of targeted anti-HER-2 therapy and personalized medicine. Oncologist. 2009;14:320-368.
8. Wolff AC, Hammond ME, Schwartz JN, et al. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol. 2007;25:118-145.
9. Gutierrez C, Schiff R. HER2: biology, detection, and clinical implications. Arch Pathol Lab Med. 2011;135:55-62.
10. Kallioniemi OP, Kallioniemi A, Kurisu W, et al. ERBB2 amplification in breast cancer analyzed by fluorescence in situ hybridization. Proc Natl Acad Sci U S A. 1992;89:5321-5325.
11. Slamon DJ, Clark GM, Wong SG, et al. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science. 1987;235:177-182.
12. Borg A, Tandon AK, Sigurdsson H, et al. HER-2/neu amplification predicts poor survival in node-positive breast cancer. Cancer Res. 1990;50:4332-4337.
13. Hartmann LC, Ingle JN, Wold LE, et al. Prognostic value of cerbB2 overexpression in axillary lymph node positive breast cancer. Results from a randomized adjuvant treatment protocol. Cancer. 1994;74:2956-2963.
14. Press MF, Pike MC, Chazin VR, et al. 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. 1993;53:4960-4970.
15. Ro JS, el-Naggar A, Ro JY, et al. c-erbB-2 amplification in nodenegative human breast cancer. Cancer Res. 1989;49:6941-6944.
16. Andrulis IL, Bull SB, Blackstein ME, et al. neu/erbB-2 amplification identifies a poor-prognosis group of women with node-negative breast cancer. Toronto Breast Cancer Study Group. J Clin Oncol. 1998;16:1340-1349.
17. Shah S, Chen B. Testing for HER2 in breast cancer: A continuing evolution. Pathol Res Int. 2011;2011:1-16.
18. Fendly BM, Winget M, Hudziak RM, et al. Characterization of murine monoclonal antibodies reactive to either the human epidermal growth factor receptor or HER2/neu gene product. Cancer Res. 1990;50:1550-1558.
19. Carter P, Presta L, Gorman CM, et al. Humanization of an anti-p185HER2 antibody for human cancer therapy. Proc Natl Acad Sci U S A. 1992;89:4285-4289.
20. Murphy CG, Modi S. HER2 breast cancer therapies: A review. Biologics. 2009;3:289-301.
21. Slamon DJ, Leyland-Jones B, Shak S, et al. Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N Engl J Med. 2001;344:783-792.
22. Nahta R, Esteva FJ. HER2 therapy: molecular mechanisms of trastuzumab resistance. Breast Cancer Res. 2006;8:215-222.
23. Scaltriti M, Rojo F, Ocana A, et al. Expression of p95HER2, a truncated form of the HER2 receptor, and response to anti- HER2 therapies in breast cancer. J Natl Cancer Inst. 2007;99:628-638.
24. Carlomagno C, Perrone F, Gallo C, et al. c-erb B2 overexpression decreases the benefit of adjuvant tamoxifen in earlystage breast cancer without axillary lymph node metastases. J Clin Oncol. 1996;14:2702-2708.
25. Muss HB, Thor AD, Berry DA, et al. c-erbB-2 expression and response to adjuvant therapy in women with node-positive early breast cancer. N Engl J Med. 1994;330:1260-1266.
26. Thor AD, Berry DA, Budman DR, et al. erbB-2, p53, and efficacy of adjuvant therapy in lymph node-positive breast cancer. J Natl Cancer Inst. 1998;90:1346-1360.
27. Harris LN, Broadwater G, Lin NU, et al. Molecular subtypesof breast cancer in relation to paclitaxel response and outcomes in women with metastatic disease: Results from CALGB 9342. Breast Cancer Res. 2006;8:R66-R77.
28. Hayes DF, Thor AD, Dressler LG, et al. HER2 and response to paclitaxel in node-positive breast cancer. N Engl J Med. 2007;357:1496-1506.
29. Badve S, Dabbs DJ, Schnitt SJ, et al. Basal-like and triplenegative breast cancers: A critical review with an emphasis on the implications for pathologists and oncologists. Mod Pathol. 2011;24:157-167.
30. Schnitt SJ. Classification and prognosis of invasive breast cancer: from morphology to molecular taxonomy. Mod Pathol. 2010;23(suppl 2):S60-S64.
31. Rouzier R, Perou CM, Symmans WF, et al. Breast cancer molecular subtypes respond differently to preoperative chemotherapy. Clin Cancer Res. 2005;11:5678-5685.
32. Simpson PT, Reis-Filho JS, Lambros MB, et al. Molecular profiling pleomorphic lobular carcinomas of the breast: evidence for a common molecular genetic pathway with classic lobular carcinomas. J Pathol. 2008;215:231-244.
33. Oakley GJ III, Tubbs RR, Crowe J, et al. HER-2 amplification in tubular carcinoma of the breast. Am J Clin Pathol. 2006;126: 55-58.
34. Adair JD, Harvey KP, Mahmood A, et al. Recurrent puremucinous carcinoma of the breast with mediastinal great vessel invasion: HER-2/neu confers aggressiveness. Am Surg. 2008;74: 113-116.
35. Jacquemier J, Padovani L, Rabayrol L, et al. Typical medullary breast carcinomas have a basal/myoepithelial phenotype. J Pathol. 2005;207:260-268.
36. Kleer CG, van Golen KL, Braun T, et al. Persistent E-cadherin expression in inflammatory breast cancer. Mod Pathol. 2001;14:458-464.
37. Wolber RA, Dupuis BA, Wick MR. Expression of c-erbB-2 oncoprotein in mammary and extramammary Paget's disease. Am J Clin Pathol. 1991;96:243-247.
38. Yonemori K, Hasegawa T, Shimizu C, et al. Correlation of p53 and MIB-1 expression with both the systemic recurrence and survival in cases of phyllodes tumors of the breast. Pathol Res Pract. 2006;202:705-712.
39. Joshi MG, Lee AK, Loda M, et al. Male breast carcinoma: An evaluation of prognostic factors contributing to a poorer outcome. Cancer. 1996;77:490-498.
40. Bloom KJ, Govil H, Gattuso P, et al. Status of HER-2 in male and female breast carcinoma. Am J Surg. 2001;182:389-392.
41. Willmore C, Holden JA, Layfield LJ. Correlation of HER2 gene amplification with immunohistochemistry in breast cancer as determined by a novel monoplex polymerase chain reaction assay. Appl Immunohistochem Mol Morphol. 2005;13: 333-341.
42. Moreno A, Lloveras B, Figueras A, et al. Ductal carcinoma in situ of the breast: correlation between histologic classifications and biologic markers. Mod Pathol. 1997;10:1088-1092.
43. Palacios J, Robles-Frias MJ, Castilla MA, et al. The molecular pathology of hereditary breast cancer. Pathobiology. 2008;75:85-94.
44. Yarden Y. Biology of HER2 and its importance in breast cancer. Oncology. 2001;61(suppl 2):1-13.
45. Vincent-Salomon A, Jouve M, Genin P, et al. HER2 status in patients with breast carcinoma is not modified selectively by preoperative chemotherapy and is stable during the metastatic process. Cancer. 2002;94:2169-2173.
46. Tapia C, Savic S, Wagner U, et al. HER2 gene status in primary breast cancers and matched distant metastases. Breast Cancer Res. 2007;9:R31-R38
47. Lower EE, Glass E, Blau R, et al. HER-2/neu expression in primary and metastatic breast cancer. Breast Cancer Res Treat. 2009;113:301-306.
48. Carlson RW, Moench SJ, Hammond ME, et al. HER2 testing in breast cancer: NCCN Task Force report and recommendations. J Natl Compr Canc Netw. 2006;4(suppl 3):S1-22.
49. CuadrosM, Villegas R. Systematic review of HER2 breast cancer testing. Appl Immunohistochem Mol Morphol. 2009;17:1-7.
50. Paik S, Bryant J, Tan-Chiu E, et al. Real-world performance of HER2 testing - National Surgical Adjuvant Breast and Bowel Project experience. J Natl Cancer Inst. 2002;94:852-854.
51. Press MF, Hung G, Godolphin W, et al. Sensitivity of HER-2/ neu antibodies in archival tissue samples: potential source oferror in immunohistochemical studies of oncogene expression. Cancer Res. 1994;54:2771-2777.
52. Hayes DF, Thor AD. c-erbB-2 in breast cancer: development of a clinically useful marker. Semin Oncol. 2002;29:231-245.
53. Wolff AC, Hammond ME, Schwartz JN, et al. American Society of Clinical Oncology/College of American Pathologists Guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. Arch Pathol Lab Med. 2007;131:18-43.
54. Wolff AC, Hammond ME, Hicks DG, 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. J Clin Oncol. 2013;31:3997-4013.
55. Hicks DG, Kulkarni S. HER2+ breast cancer: Review of biologic relevance and optimal use of diagnostic tools. Am J Clin Pathol. 2008;129:263-273.
56. Wang S, Saboorian MH, Frenkel EP, et al. 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. 2001;116:495-503.
57. Dowsett M, Hanby AM, Laing R, et al. HER2 testing in the UK: consensus from a national consultation. J Clin Pathol. 2007;60:685-689.
58. Hanna WM, Kwok K. Chromogenic in-situ hybridization: A viable alternative to fluorescence in-situ hybridization in the HER2 testing algorithm. Mod Pathol. 2006;19:481-487.
59. Di Palma S, Collins N, Faulkes C, et al. Chromogenic in situ hybridisation (CISH) should be an accepted method in the routine diagnostic evaluation of HER2 status in breast cancer. J Clin Pathol. 2007;60:1067-1068.
60. Zhao J, Wu R, Au A, et al. Determination of HER2 gene amplification by chromogenic in situ hybridization (CISH) in archival breast carcinoma. Mod Pathol. 2002;15:657-665.
61. Dietel M, Ellis IO, Hofler H, et al. Comparison of automated silver enhanced in situ hybridisation (SISH) and fluorescence ISH (FISH) for the validation of HER2 gene status in breast carcinoma according to the guidelines of the American Society of Clinical Oncology and the College of American Pathologists. Virchows Arch. 2007;451:19-25.
62. Papouchado BG, Myles J, Lloyd RV, et al. Silver in situ hybridization (SISH) for determination of HER2 gene status in breast carcinoma: comparison with FISH and assessment of interobserver reproducibility. Am J Surg Pathol. 2010;34: 767-776.
63. Nitta H, Hauss-Wegrzyniak B, Lehrkamp M, et al. Development of automated brightfield double in situ hybridization (BDISH) application for HER2 gene and chromosome 17 centromere (CEN 17) for breast carcinomas and an assay performance comparison to manual dual color HER2 fluorescence in situ hybridization (FISH). Diagn Pathol. 2008;3:41-52.
64. Ross JS, Cronin M. Whole cancer genome sequencing by nextgeneration methods. Am J Clin Pathol. 2011;136:527-539.
65. Lipson D, He J, Yelensky R, et al. Next-generation sequencing of FFPE breast cancers demonstrates high concordance with FISH in calling HER2 amplifications and commonly detects clinically relevant genomic alterations (poster abstract). Cancer Res. 2012;72(suppl 3). Doi: 10.1158/0008-5472. SABCS12-PD02-07.
66. Bose R, Kavuri SM, Searleman AC, et al. Activating HER2 mutations in HER2 gene amplification negative breast cancer. Cancer Discov. 2013;3:224-237.
67. Bhargava R, Dabbs DJ. Oncotype DX test on unequivocally HER2-positive cases: potential for harm. J Clin Oncol. 2012;30:570-571.
68. Hyun CL, Lee HE, Kim KS, et al. The effect of chromosome 17 polysomy on HER-2/neu status in breast cancer. J Clin Pathol. 2008;61:317-321.
69. Krishnamurti U, Hammers JL, Atem FD, et al. Poor prognostic significance of unamplified chromosome 17 polysomy in invasive breast carcinoma. Mod Pathol. 2009;22:1044-1048.
70. Torrisi R, Rotmensz N, Bagnardi V, et al. HER2 status in early breast cancer: Relevance of cell staining patterns, gene amplification and polysomy 17. Eur J Cancer. 2007;43:2339-2344.
71. Staaf J, Jonsson G, Ringner M, et al. High-resolution genomic and expression analyses of copy number alterations in HER2- amplified breast cancer. Breast Cancer Res. 2010;12:R25-R42.
72. Yeh IT, Martin MA, Robetorye RS, et al. Clinical validation of an array CGH test for HER2 status in breast cancer reveals that polysomy 17 is a rare event. Mod Pathol. 2009;22:1169-1175.
73. Marchio C, Lambros MB, Gugliotta P, et al. Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and microarraybased CGH analysis. J Pathol. 2009;219:16-24.
74. Moelans CB, de Weger RA, van Diest PJ. Absence of chromosome 17 polysomy in breast cancer: Analysis by CEP17 chromogenic in situ hybridization and multiplex ligation-dependent probe amplification. Breast Cancer Res Treat. 2010;120:1-7.
75. Downs-Kelly E, Yoder BJ, Stoler M, et al. 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. 2005;29:1221-1227.
76. Petroni S, Addati T, Mattioli E, et al. Centromere 17 copy number alteration: negative prognostic factor in invasive breastcancer? Arch Pathol Lab Med. 2012;136:993-1000.
77. Watters AD, Going JJ, Cooke TG, et al. Chromosome 17 aneusomy is associated with poor prognostic factors in invasive breast carcinoma. Breast Cancer Res Treat. 2003;77:109-114.
78. Krishnamurti U, Zarineh A, Atem FD, et al. Correlation of immunohistochemical expression of p53 with unamplified chromosome 17 polysomy in invasive breast carcinoma. Appl Immunohistochem Mol Morphol. 2011;19:28-32.
79. Viale G. Be precise! The need to consider the mechanisms for CEP17 copy number changes in breast cancer. J Pathol 2009;219:1-2.
80. Hofmann M, Stoss O, Gaiser T, et al. Central HER2 IHC and FISH analysis in a trastuzumab (Herceptin) phase II monotherapy study: Assessment of test sensitivity and impact of chromosome 17 polysomy. J Clin Pathol. 2008;61:89-94