BRAF/KRAS gene sequencing of sebaceous neoplasms after mismatch repair protein analysis

Human Pathology

Volumn 45, Issue 6, 2014, Pages 1213-1220

  Cornejo, Kristine M ^a   Hutchinson, Lloyd ^a   Deng, April ^a   Tomaszewicz, Keith ^a   Welch, Matthew ^a   Lyle, Stephen ^a   Dresser, Karen ^a   Cosar, Ediz F ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

BRAF; KRAS; Lynch syndrome; Microsatellite instability; Mismatch repair genes; Muir Torre syndrome; Sebaceous neoplasms

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MISMATCH REPAIR PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH6;

ADULT; AGED; ARTICLE; CODON; COLORECTAL CARCINOMA; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN TISSUE; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SEBACEOMA; SEBACEOUS CARCINOMA; SEBACEOUS GLAND ADENOMA; SEBACEOUS GLAND TUMOR; WILD TYPE;

BRAF; KRAS; LYNCH SYNDROME; MICROSATELLITE INSTABILITY; MISMATCH REPAIR GENES; MUIR-TORRE SYNDROME; SEBACEOUS NEOPLASMS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; DNA MISMATCH REPAIR; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION; SEBACEOUS GLAND NEOPLASMS;

EID: 84901442002     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2014.02.001     Document Type: Article

References (32)

1. H.T. Lynch, R.M. Fusaro, L. Roberts, G.J. Voorhees, and J.F. Lynch Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome Br J Dermatol 113 1985 295 301
2. M.C. Finan, and S.M. Connolly Sebaceous gland tumors and systemic disease: a clinicopathologic analysis Medicine 63 1984 232 242
3. J. Rothenberg, W.C. Lambert, J.T. Vail Jr., A.S. Nemlick, and R.A. Schwartz The Muir-Torre (Torre's) syndrome: the significance of a solitary sebaceous tumor J Am Acad Dermatol 23 1990 638 640
4. A. Umar, C.R. Boland, and J.P. Terdiman et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
5. C.R. Boland, M. Koi, D.K. Chang, and J.M. Carethers The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside Faml Cancer 7 2008 41 52
6. J. Shia Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry J Mol Diagn 10 2008 293 300
7. D.B. Eisen, and D.J. Michael Sebaceous lesions and their associated syndromes: part II J Am Acad Dermatol 61 2009 563 578 [quiz 579-580]
8. E. Mangold, C. Pagenstecher, and M. Leister et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome J Med Genet 41 2004 567 572
9. E. Mangold, N. Rahner, and N. Friedrichs et al. MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol 156 2007 158 162
10. O. Abbas, and M. Mahalingam Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm J Cutan Pathol 36 2009 613 619
11. A.M. Cesinaro, A. Ubiali, P. Sighinolfi, G.P. Trentini, F. Gentili, and F. Facchetti Mismatch repair proteins expression and microsatellite instability in skin lesions with sebaceous differentiation: a study in different clinical subgroups with and without extracutaneous cancer Am J Dermatopathol 29 2007 351 358
12. R.A. Schwartz, and D.P. Torre The Muir-Torre syndrome: a 25-year retrospect J Am Acad Dermatol 33 1995 90 104
13. M.T. Parsons, D.D. Buchanan, B. Thompson, J.P. Young, and A.B. Spurdle Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification J Med Genet 49 2012 151 157
14. G. Deng, I. Bell, and S. Crawley et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer Clin Cancer Res 10 2004 191 195
15. M. Miyaki, T. Iijima, T. Yamaguchi, T. Kadofuku, N. Funata, and T. Mori Both BRAF and KRAS mutations are rare in colorectal carcinomas from patients with hereditary nonpolyposis colorectal cancer Cancer Lett 211 2004 105 109
16. C. Oliveira, J.L. Westra, and D. Arango et al. Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status Hum Mol Genet 13 2004 2303 2311
17. L. Orta, D.S. Klimstra, and J. Qin et al. Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics Am J Surg Pathol 33 2009 934 944
18. V. Chhibber, K. Dresser, and M. Mahalingam MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome Mod Pathol 21 2008 159 164
19. R.S. Singh, W. Grayson, and M. Redston et al. Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia Am J Surg Pathol 32 2008 936 942
20. P.R. Cohen, S.R. Kohn, and R. Kurzrock Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome Am J Med 90 1991 606 613
21. A. McGivern, C.V. Wynter, and V.L. Whitehall et al. Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer Fam Cancer 3 2004 101 107
22. M. Kawaguchi, M. Yanokura, and K. Banno et al. Analysis of a correlation between the BRAF V600E mutation and abnormal DNA mismatch repair in patients with sporadic endometrial cancer Int J Oncol 34 2009 1541 1547
23. L.M. Peterson, B.R. Kipp, and K.C. Halling et al. Molecular characterization of endometrial cancer: a correlative study assessing microsatellite instability, MLH1 hypermethylation, DNA mismatch repair protein expression, and PTEN, PIK3CA, KRAS, and BRAF mutation analysis Int J Gynecol Pathol 31 2012 195 205
24. R. Seruca, S. Velho, C. Oliveira, M. Leite, P. Matos, and P. Jordan Unmasking the role of KRAS and BRAF pathways in MSI colorectal tumors Expert Rev Gastroenterol Hepatol 3 2009 5 9
25. T. Fujiwara, J.M. Stolker, and T. Watanabe et al. Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences Am J Pathol 153 1998 1063 1078
26. R. Kruse, and T. Ruzicka DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention Trends Mol Med 10 2004 136 141
27. M.P. Hitchins, and R.L. Ward Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer J Med Genet 46 2009 793 802
28. R.C. Niessen, R.M. Hofstra, and H. Westers et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome Genes Chromosomes Cancer 48 2009 737 744
29. C. Di Gregorio, M. Frattini, and S. Maffei et al. Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis Gastroenterology 131 2006 439 444
30. C. Guillen-Ponce, A. Castillejo, and V.M. Barbera et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome Fam Cancer 9 2010 151 154
31. M. Nielsen, H. Morreau, H.F. Vasen, and F.J. Hes MUTYH-associated polyposis (MAP) Crit Rev Oncol Hematol 79 2011 1 16
32. M. Goldberg, C. Rummelt, S. Foja, L.M. Holbach, and W.G. Ballhausen Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients Hum Mutat 27 2006 155 162