Breast carcinoma. molecular profiling and updates.

Clinics in Laboratory Medicine

Volumn 33, Issue 4, 2013, Pages 891-909

  Bandyopadhyay, Sudeshna ^a   Ali Fehmi, Rouba ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Breast cancer; Breast carcinoma; Molecular profiling; Updates

Indexed keywords

CLAUDIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; INTERFERON;

ADENOID CYSTIC CARCINOMA; APOCRINE CARCINOMA; BREAST CANCER; BREAST CARCINOMA; CANCER MORPHOLOGY; CANCER PROGNOSIS; CANCER THERAPY; COLLOID CARCINOMA; ESTROGEN RECEPTOR NEGATIVE BREAST CARCINOMA; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; GENETIC CORRELATION; GENETIC VARIABILITY; HER2/NEU POSITIVE BREAST CANCER; HUMAN; INTRADUCTAL CARCINOMA; INVASIVE CARCINOMA; INVASIVE MICROPAPILLARY CARCINOMA; INVASIVE PAPILLARY CARCINOMA; LARGE CELL NEUROENDOCRINE CARCINOMA; LUMINAL A BREAST CANCER; LUMINAL B BREAST CANCER; MEDULLARY CARCINOMA; METAPLASTIC CARCINOMA; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; NORMAL BREAST LIKE BREAST CANCER; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVIEW; SECRETORY CARCINOMA; TRIPLE NEGATIVE BREAST CANCER; TUBULAR CARCINOMA;

BREAST CANCER; BREAST CARCINOMA; MOLECULAR PROFILING; UPDATES;

BREAST NEOPLASMS; FEMALE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES;

EID: 84888168515     PISSN: 02722712     EISSN: 15579832     Source Type: Journal    
DOI: 10.1016/j.cll.2013.08.009     Document Type: Review

References (96)

1. Siegel R., Naishadham D., Jemal A. Cancer statistics, 2013. CA Cancer J Clin 2013, 63:11-30.
2. World Health Organization classification of tumor. Pathology and genetics of tumors of the breast and female genital organs 2003, 13-59. IARC Press, Lyon (France). F.A. Tavassoli, P. Devilee (Eds.).
3. O'Brien K.M., Cole S.R., Tse C.K., et al. Intrinsic breast tumor subtypes, race, and long-term survival in the Carolina Breast Cancer Study. Clin Cancer Res 2010, 16:6100-6110.
4. Patani N., Martin L.A., Dowsett M. Biomarkers for the clinical management of breast cancer: international perspective. Int J Cancer 2013, 133(1):1-13.
5. Hammond M.E. ASCO-CAP guidelines for breast predictive factor testing: an update. Appl Immunohistochem Mol Morphol 2011, 19:499-500.
6. Perou C.M., Sorlie T., Eisen M.B., et al. Molecular portraits of human breast tumours. Nature 2000, 406:747-752.
7. Sorlie T., Perou C.M., Tibshirani R., et al. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci USA 2001, 98:10869-10874.
8. Sotiriou C., Neo S.Y., McShane L.M., et al. Breast cancer classification and prognosis based on gene expression profiles from a population-based study. Proc Natl Acad Sci USA 2003, 100:10393-10398.
9. Prat A., Cheang M.C., Martin M., et al. Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal A breast cancer. JClin Oncol 2013, 31:203-209.
10. Park S., Koo J.S., Kim M.S., et al. Characteristics and outcomes according to molecular subtypes of breast cancer as classified by a panel of four biomarkers using immunohistochemistry. Breast 2012, 21:50-57.
11. Voduc K.D., Cheang M.C., Tyldesley S., et al. Breast cancer subtypes and the risk of local and regional relapse. JClin Oncol 2010, 28:1684-1691.
12. Goldhirsch A., Wood W.C., Coates A.S., et al. Strategies for subtypes-dealing with the diversity of breast cancer: highlights of the St. Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2011. Ann Oncol 2011, 22:1736-1747.
13. Kim H.S., Park I., Cho H.J., et al. Analysis of the potent prognostic factors in luminal-type breast cancer. JBreast Cancer 2012, 15:401-406.
14. Cheang M.C., Chia S.K., Voduc D., et al. Ki67 index, HER2 status, and prognosis of patients with luminal B breast cancer. JNatl Cancer Inst 2009, 101:736-750.
15. Wirapati P., Sotiriou C., Kunkel S., 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:R65.
16. Guiu S., Michiels S., Andre F., et al. Molecular subclasses of breast cancer: how do we define them? the IMPAKT 2012 Working Group Statement. Ann Oncol 2012, 23:2997-3006.
17. Ono M., Tsuda H., Yunokawa M., et al. Prognostic impact of Ki-67 labeling indices with 3 different cutoff values, histological grade, and nuclear grade in hormone-receptor-positive, HER2-negative, node-negative invasive breast cancers. Breast Cancer 2013, [Epub ahead of print].
18. Hu Z., Fan C., Oh D.S., et al. The molecular portraits of breast tumors are conserved across microarray platforms. BMC Genomics 2006, 7:96.
19. Natrajan R., Weigelt B., Mackay A., et al. An integrative genomic and transcriptomic analysis reveals molecular pathways and networks regulated by copy number aberrations in basal-like, HER2 and luminal cancers. Breast Cancer Res Treat 2010, 121:575-589.
20. Wiechmann L., Sampson M., Stempel M., et al. Presenting features of breast cancer differ by molecular subtype. Ann Surg Oncol 2009, 16:2705-2710.
21. Dowsett M., Procter M., McCaskill-Stevens W., et al. Disease-free survival according to degree of HER2 amplification for patients treated with adjuvant chemotherapy with or without 1 year of trastuzumab: the HERA Trial. JClin Oncol 2009, 27:2962-2969.
22. Smith I., Procter M., Gelber R.D., HERA study team, et al. 2-year follow-up of trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer: a randomised controlled trial. Lancet 2007, 369:29-36.
23. Gennari A., Sormani M.P., Pronzato P., et al. HER2 status and efficacy of adjuvant anthracyclines in early breast cancer: a pooled analysis of randomized trials. JNatl Cancer Inst 2008, 100:14-20.
24. Hayes D.F., Thor A.D., Dressler L.G., Cancer and Leukemia Group B (CALGB) Investigators, et al. HER2 and response to paclitaxel in node-positive breast cancer. NEngl J Med 2007, 357:1496-1506.
25. Pritchard K.I., Messersmith H., Elavathil L., et al. HER-2 and topoisomerase II as predictors of response to chemotherapy. JClin Oncol 2008, 26:736-744.
26. Goldstein N.S., Decker D., Severson D., et al. Molecular classification system identifies invasive breast carcinoma patients who are most likely and those who are least likely to achieve a complete pathologic response after neoadjuvant chemotherapy. Cancer 2007, 110:1687-1696.
27. Nguyen P.L., Taghian A.G., Katz M.S., et al. Breast cancer subtype approximated by estrogen receptor, progesterone receptor, and HER-2 is associated with local and distant recurrence after breast-conserving therapy. JClin Oncol 2008, 26:2373-2378.
28. Kennecke H., Yerushalmi R., Woods R., et al. Metastatic behavior of breast cancer subtypes. JClin Oncol 2010, 28:3271-3277.
29. Smid M., Wang Y., Zhang Y., et al. Subtypes of breast cancer show preferential site of relapse. Cancer Res 2008, 68:3108-3114.
30. Livasy C.A., Karaca G., Nanda R., et al. Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma. Mod Pathol 2006, 19:264-271.
31. Bosch A., Eroles P., Zaragoza R., et al. Triple-negative breast cancer: molecular features, pathogenesis, treatment and current lines of research. Cancer Treat Rev 2010, 36:206-215.
32. Carey L.A., Perou C.M., Livasy C.A., et al. Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA 2006, 295:2492-2502.
33. Prat A., Parker J.S., Karginova O., et al. Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer. Breast Cancer Res 2010, 12:R68.
34. Farmer P., Bonnefoi H., Becette V., et al. Identification of molecular apocrine breast tumours by microarray analysis. Oncogene 2005, 24:4660-4671.
35. Bhargava R., Striebel J., Beriwal S., et al. Prevalence, morphologic features and proliferation indices of breast carcinoma molecular classes using immunohistochemical surrogate markers. Int J Clin Exp Pathol 2009, 2:444-455.
36. Moinfar F., Okcu M., Tsybrovskyy O., et al. Androgen receptors frequently are expressed in breast carcinomas: potential relevance to new therapeutic strategies. Cancer 2003, 98:703-711.
37. Mellinghoff I.K., Vivanco I., Kwon A., et al. HER2/neu kinase-dependent modulation of androgen receptor function through effects on DNA binding and stability. Cancer Cell 2004, 6:517-527.
38. Bromberg J.F., Horvath C.M., Wen Z., et al. Transcriptionally active Stat1 is required for the antiproliferative effects of both interferon alpha and interferon gamma. Proc Natl Acad Sci USA 1996, 93:7673-7678.
39. Rakha E.A., Lee A.H., Evans A.J., et al. Tubular carcinoma of the breast: further evidence to support its excellent prognosis. JClin Oncol 2010, 28:99-104.
40. Colleoni M., Rotmensz N., Maisonneuve P., et al. Outcome of special types of luminal breast cancer. Ann Oncol 2012, 23:1428-1436.
41. Montagna E., Maisonneuve P., Rotmensz N., et al. Heterogeneity of triple-negative breast cancer: histologic subtyping to inform the outcome. Clin Breast Cancer 2013, 13:31-39.
42. Weigelt B., Horlings H.M., Kreike B., et al. Refinement of breast cancer classification by molecular characterization of histological special types. JPathol 2008, 216:141-150.
43. Iorfida M., Maiorano E., Orvieto E., et al. Invasive lobular breast cancer: subtypes and outcome. Breast Cancer Res Treat 2012, 133:713-723.
44. Castellana B., Escuin D., Perez-Olabarria M., et al. Genetic up-regulation and overexpression of PLEKHA7 differentiates invasive lobular carcinomas from invasive ductal carcinomas. Hum Pathol 2012, 43:1902-1909.
45. Gruel N., Lucchesi C., Raynal V., et al. Lobular invasive carcinoma of the breast is a molecular entity distinct from luminal invasive ductal carcinoma. Eur J Cancer 2010, 46:2399-2407.
46. Eusebi V., Magalhaes F., Azzopardi A.G. Pleomorphic lobular carcinoma of the breast: an aggressive tumor showing apocrine differentiation. Hum Pathol 1992, 23:655-662.
47. Middleton L.P., Palacios D.M., Bryant B.R., et al. Pleomorphic lobular carcinoma: morphology, immunocytochemistry and molecular analysis. Am J Surg Pathol 2000, 24:1650-1656.
48. Monhollen L., Morrison C., Ademuyiwa F.O., et al. Pleomorphic lobular carcinoma: a distinctive clinical and molecular breast cancer type. Histopathology 2012, 61:365-377.
49. Buchanan C.L., Flynn L.W., Murray M.P., et al. Is pleomorphic lobular carcinoma really a distinct clinical entity?. JSurg Oncol 2008, 98:314-317.
50. Venable J.G., Schwartz A.M., Silverberg S.G. Infiltrating cribriform carcinoma of the breast: a distinctive clinicopathologic entity. Hum Pathol 1990, 21:333-338.
51. Riener M.O., Nikolopoulos E., Herr A., et al. Microarray comparative genomic hybridization analysis of tubular breast carcinoma shows recurrent loss of the CDH13 locus on 16q. Hum Pathol 2008, 39:1621-1629.
52. Capella C., Eusebi V., Mann B., et al. Endocrine differentiation in mucoid carcinoma of the breast. Histopathology 1980, 4:613-630.
53. Weigelt B., Geyer F.C., Horlings H.M., et al. Mucinous and neuroendocrine breast carcinomas are transcriptionally distinct from invasive ductal carcinomas of no special type. Mod Pathol 2009, 22:1401-1414.
54. Lacroix-Triki M., Suarez P.H., MacKay A., et al. Mucinous carcinoma of the breast is genomically distinct from invasive ductal carcinomas of no special type. JPathol 2010, 222:282-298.
55. Duprez R., Wilkerson P.M., Lacroix-Triki M., et al. Immunophenotypic and genomic characterization of papillary carcinomas of the breast. JPathol 2012, 226:427-441.
56. Liu Z.Y., Liu N., Wang Y.H., et al. Clinicopathologic characteristics and molecular subtypes of invasive papillary carcinoma of the breast: a large case study. JCancer Res Clin Oncol 2013, 139:77-84.
57. Chen L., Fan Y., Lang R.G., et al. Breast carcinoma with micropapillary features: clinicopathologic study and long-term follow-up of 100 cases. Int J Surg Pathol 2008, 16:155-163.
58. Marchio C., Iravani M., Natrajan R., et al. Genomic and immunophenotypical characterization of pure micropapillary carcinomas of the breast. JPathol 2008, 215:398-410.
59. Yamaguchi R., Tanaka M., Kondo K., et al. Characteristic morphology of invasive micropapillary carcinoma of the breast: an immunohistochemical analysis. Jpn J Clin Oncol 2010, 40:781-787.
60. Thor A.D., Eng C., Devries S., et al. Invasive micropapillary carcinoma of the breast is associated with chromosome 8 abnormalities detected by comparative genomic hybridization. Hum Pathol 2002, 33:628-631.
61. Dellapasqua S., Maisonneuve P., Viale G., et al. Immunohistochemically defined subtypes and outcome of apocrine breast cancer. Clin Breast Cancer 2013, 13:95-102.
62. Tsutsumi Y. Apocrine carcinoma as triple-negative breast cancer: novel definition of apocrine-type carcinoma as estrogen/progesterone receptor-negative and androgen receptor-positive invasive ductal carcinoma. Jpn J Clin Oncol 2012, 42:375-386.
63. Hennessy B.T., Gonzalez-Angulo A.M., Stemke-Hale K., et al. Characterization of a naturally occurring breast cancer subset enriched in epithelial-to-mesenchymal transition and stem cell characteristics. Cancer Res 2009, 69:4116-4124.
64. Weigelt B., Kreike B., Reis-Filho J.S. Metaplastic breast carcinomas are basal-like breast cancers: a genomic profiling analysis. Breast Cancer Res Treat 2009, 117:273-280.
65. Geyer F.C., Weigelt B., Natrajan R., et al. Molecular analysis reveals a genetic basis for the phenotypic diversity of metaplastic breast carcinomas. JPathol 2010, 220:562-573.
66. Martinez S.R., Beal S.H., Canter R.J., et al. Medullary carcinoma of the breast: a population-based perspective. Med Oncol 2011, 28:738-744.
67. Li C.I. Risk of mortality by histologic type of breast cancer in the United States. Hormones & cancer 2010, 1:156-165.
68. Vu-Nishino H., Tavassoli F.A., Ahrens W.A., et al. Clinicopathologic features and long-term outcome of patients with medullary breast carcinoma managed with breast-conserving therapy (BCT). International Journal of Radiation Oncology, Biology, Physics 2005, 62:1040-1047.
69. Reinfuss M., Stelmach A., Mitus J., et al. Typical medullary carcinoma of the breast: a clinical and pathological analysis of 52 cases. Journal of Surgical Oncology 1995, 60:89-94.
70. Ridolfi R.L., Rosen P.P., Port A., et al. Medullary carcinoma of the breast: a clinicopathologic study with 10 year follow-up. Cancer 1977, 40:1365-1385.
71. Bertucci F., Finetti P., Cervera N., et al. Gene expression profiling shows medullary breast cancer is a subgroup of basal breast cancers. Cancer Res 2006, 66:4636-4644.
72. Vincent-Salomon A., Gruel N., Lucchesi C., et al. Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity. Breast Cancer Res 2007, 9:R24.
73. McDivitt R.W., Stewart F.W. Breast carcinoma in children. JAMA 1966, 195:388-390.
74. Oberman H.A. Secretory carcinoma of the breast in adults. Am J Surg Pathol 1980, 4:465-470.
75. Lae M., Freneaux P., Sastre-Garau X., et al. Secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the basal-like carcinoma spectrum. Mod Pathol 2009, 22:291-298.
76. Lambros M.B., Tan D.S., Jones R.L., et al. Genomic profile of a secretory breast cancer with an ETV6-NTRK3 duplication. JClin Pathol 2009, 62:604-612.
77. Vasudev P., Onuma K. Secretory breast carcinoma: unique, triple-negative carcinoma with a favorable prognosis and characteristic molecular expression. Arch Pathol Lab Med 2011, 135:1606-1610.
78. Brill L.B., Kanner W.A., Fehr A., et al. Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms. Mod Pathol 2011, 24:1169-1176.
79. Wetterskog D., Lopez-Garcia M.A., Lambros M.B., et al. Adenoid cystic carcinomas constitute a genomically distinct subgroup of triple-negative and basal-like breast cancers. JPathol 2012, 226:84-96.
80. Persson M., Andren Y., Mark J., et al. Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck. Proc Natl Acad Sci USA 2009, 106:18740-18744.
81. Collins L.C., Tamimi R.M., Baer H.J., et al. Outcome of patients with ductal carcinoma in situ untreated after diagnostic biopsy: results from the Nurses' Health Study. Cancer 2005, 103:1778-1784.
82. Tsikitis V.L., Chung M.A. Biology of ductal carcinoma in situ classification based on biologic potential. Am J Clin Oncol 2006, 29:305-310.
83. Chaudhuri B., Crist K.A., Mucci S., et al. Distribution of estrogen receptor in ductal carcinoma in situ of the breast. Surgery 1993, 113:134-137.
84. Barnes R., Masood S. Potential value of hormone receptor assay in carcinoma in situ of breast. Am J Clin Pathol 1990, 94:533-537.
85. Karayiannakis A.J., Bastounis E.A., Chatzigianni E.B., et al. Immunohistochemical detection of oestrogen receptors in ductal carcinoma in situ of the breast. Eur J Surg Oncol 1996, 22:578-582.
86. Provenzano E., Hopper J.L., Giles G.G., et al. Biological markers that predict clinical recurrence in ductal carcinoma in situ of the breast. Eur J Cancer 2003, 39:622-630.
87. Poller D.N., Roberts E.C., Bell J.A., et al. p53 protein expression in mammary ductal carcinoma in situ: relationship to immunohistochemical expression of estrogen receptor and c-erbB-2 protein. Hum Pathol 1993, 24:463-468.
88. Allred D.C., Wu Y., Mao S., et al. Ductal carcinoma in situ and the emergence of diversity during breast cancer evolution. Clin Cancer Res 2008, 14:370-378.
89. Wiechmann L., Kuerer H.M. The molecular journey from ductal carcinoma in situ to invasive breast cancer. Cancer 2008, 112:2130-2142.
90. Gupta S.K., Douglas-Jones A.G., Fenn N., et al. The clinical behavior of breast carcinoma is probably determined at the preinvasive stage (ductal carcinoma in situ). Cancer 1997, 80:1740-1745.
91. Wallis M.G., Clements K., Kearins O., et al. The effect of DCIS grade on rate, type and time to recurrence after 15 years of follow-up of screen-detected DCIS. Br J Cancer 2012, 106:1611-1617.
92. Reis-Filho J.S., Lakhani S.R. The diagnosis and management of pre-invasive breast disease: genetic alterations in pre-invasive lesions. Breast Cancer Res 2003, 5:313-319.
93. King T.A., Sakr R.A., Muhsen S., et al. Is there a low-grade precursor pathway in breast cancer?. Ann Surg Oncol 2012, 19:1115-1121.
94. Allinen M., Beroukhim R., Cai L., et al. Molecular characterization of the tumor microenvironment in breast cancer. Cancer Cell 2004, 6:17-32.
95. Ma X.J., Salunga R., Tuggle J.T., et al. Gene expression profiles of human breast cancer progression. Proc Natl Acad Sci USA 2003, 100:5974-5979.
96. Knudsen E.S., Ertel A., Davicioni E., et al. Progression of ductal carcinoma in situ to invasive breast cancer is associated with gene expression programs of EMT and myoepithelia. Breast Cancer Res Treat 2012, 133:1009-1024.