Utility of BRAF V600E mutation-specific immunohistochemistry in detecting BRAF V600E-Mutated gastrointestinal stromal tumors

American Journal of Clinical Pathology

Volumn 144, Issue 5, 2015, Pages 782-789

  Patil, Deepa T ^a   Ma, Shuang ^a   Konishi, Mai ^b   Carver, Paula D ^a   Pukay, Marina ^c   Beadling, Carol ^c   Corless, Christopher L ^c   Rubin, Brian P ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

BRAF V600E; Gastrointestinal stromal tumor; Immunohistochemistry

Indexed keywords

B RAF KINASE; BRAF PROTEIN, HUMAN; TUMOR MARKER;

ADULT; AGED; ARTICLE; CELL STRUCTURE; CLINICAL ARTICLE; COLON; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR GENETICS; OMENTUM; PELVIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECTUM; SENSITIVITY AND SPECIFICITY; SMALL INTESTINE; SPINDLE CELL; STOMACH; TUMOR LOCALIZATION; VERY ELDERLY; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PROCEDURES;

ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS, TUMOR; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 84947983123     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPRK3V2EIIUPQZ     Document Type: Article

References (39)

1. Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol. 2006; 23: 70-83.
2. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998; 279: 577-580.
3. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003; 299: 708-710.
4. Miettinen M, Lasota J. Gastrointestinal stromal tumors - definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch. 2001; 438: 1-12.
5. Gill AJ, Chou A, Vilain RE, et al. "Pediatric-type" gastrointestinal stromal tumors are SDHB negative ("type 2") GISTs. Am J Surg Pathol. 2011; 35: 1245-1248.
6. Rege TA, Wagner AJ, Corless CL, et al. "Pediatric-type" gastrointestinal stromal tumors in adults: distinctive histology predicts genotype and clinical behavior. Am J Surg Pathol. 2011; 35: 495-504.
7. Miettinen M, Killian JK, Wang ZF, et al. Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. Am J Surg Pathol. 2013; 37: 234-240.
8. Wagner AJ, Remillard SP, Zhang YX, et al. Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors. Mod Pathol. 2013; 26: 289-294.
9. Agaimy A, Terracciano LM, Dirnhofer S, et al. V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. J Clin Pathol. 2009; 62: 613-616.
10. Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet. 2007; 369: 1731-1741.
11. Falchook GS, Trent JC, Heinrich MC, et al. BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. Oncotarget. 2013; 4: 310-315.
12. Curry JL, Torres-Cabala CA, Tetzlaff MT, et al. Molecular platforms utilized to detect BRAF V600E mutation in melanoma. Semin Cutan Med Surg. 2012; 31: 267-273.
13. Busam KJ, Hedvat C, Pulitzer M, et al. Immunohistochemical analysis of BRAF(V600E) expression of primary and metastatic melanoma and comparison with mutation status and melanocyte differentiation antigens of metastatic lesions. Am J Surg Pathol. 2013; 37: 413-420.
14. Bullock M, O'Neill C, Chou A, et al. Utilization of a MAB for BRAF(V600E) detection in papillary thyroid carcinoma. Endocr Relat Cancer. 2012; 19: 779-784.
15. Sinicrope FA, Smyrk TC, Tougeron D, et al. Mutation-specific antibody detects mutant BRAFV600E protein expression in human colon carcinomas. Cancer. 2013; 119: 2765-2770.
16. Adackapara CA, Sholl LM, Barletta JA, et al. Immunohistochemistry using the BRAF V600E mutation-specific monoclonal antibody VE1 is not a useful surrogate for genotyping in colorectal adenocarcinoma. Histopathology. 2013; 63: 187-193.
17. Lasota J, Kowalik A, Wasag B, et al. Detection of the BRAF V600E mutation in colon carcinoma: critical evaluation of the immunohistochemical approach. Am J Surg Pathol. 2014; 38: 1235-1241.
18. Ilie MI, Lassalle S, Long-Mira E, et al. Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays. Thyroid. 2014; 24: 858-866.
19. Demetri GD, Heinrich MC, Fletcher JA, et al. Molecular target modulation, imaging, and clinical evaluation of gastrointestinal stromal tumor patients treated with sunitinib malate after imatinib failure. Clin Cancer Res. 2009; 15: 5902-5909.
20. Corless CL, Ballman KV, Antonescu CR, et al. Pathologic and molecular features correlate with long-term outcome after adjuvant therapy of resected primary GI stromal tumor: the ACOSOG Z9001 trial. J Clin Oncol. 2014; 32: 1563-1570.
21. Demetri GD, von Mehren M, Blanke CD, et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med. 2002; 347: 472-480.
22. Demetri GD, van Oosterom AT, Garrett CR, et al. Efficacy and safety of sunitinib in patients with advanced gastrointestinal stromal tumour after failure of imatinib: a randomised controlled trial. Lancet. 2006; 368: 1329-1338.
23. Demetri GD, Reichardt P, Kang YK, et al. Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumours after failure of imatinib and sunitinib (GRID): an international, multicentre, randomised, placebo-controlled, phase 3 trial. Lancet. 2013; 381: 295-302.
24. Blank PR, Moch H, Szucs TD, et al. KRAS and BRAF mutation analysis in metastatic colorectal cancer: a cost-effectiveness analysis from a Swiss perspective. Clin Cancer Res. 2011; 17: 6338-6346.
25. Shaib W, Mahajan R, El-Rayes B. Markers of resistance to anti-EGFR therapy in colorectal cancer. J Gastrointest Oncol. 2013; 4: 308-318.
26. Calonge N, Fisher NL, Berg AO, et al. Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? Genet Med. 2013; 15: 517-527.
27. Capper D, Preusser M, Habel A, et al. Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. Acta Neuropathol. 2011; 122: 11-19.
28. Koperek O, Kornauth C, Capper D, et al. Immunohistochemical detection of the BRAF V600E-mutated protein in papillary thyroid carcinoma. Am J Surg Pathol. 2012; 36: 844-850.
29. Long GV, Wilmott JS, Capper D, et al. Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. Am J Surg Pathol. 2013; 37: 61-65.
30. Colomba E, Helias-Rodzewicz Z, Von Deimling A, et al. Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing. J Mol Diagn. 2013; 15: 94-100.
31. Ilie M, Long E, Hofman V, et al. Diagnostic value of immunohistochemistry for the detection of the BRAFV600E mutation in primary lung adenocarcinoma Caucasian patients. Ann Oncol. 2013; 24: 742-748.
32. Capper D, Voigt A, Bozukova G, et al. BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer. Int J Cancer. 2013; 133: 1624-1630.
33. Toon CW, Walsh MD, Chou A, et al. BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome. Am J Surg Pathol. 2013; 37: 1592-1602.
34. Daniels M, Lurkin I, Pauli R, et al. Spectrum of KIT/PDGFRA/BRAF mutations and phosphatidylinositol-3-kinase pathway gene alterations in gastrointestinal stromal tumors (GIST). Cancer Lett. 2011; 312: 43-54.
35. Hostein I, Faur N, Primois C, et al. BRAF mutation status in gastrointestinal stromal tumors. Am J Clin Pathol. 2010; 133: 141-148.
36. Agaram NP, Wong GC, Guo T, et al. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2008; 47: 853-859.
37. Miranda C, Nucifora M, Molinari F, et al. KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin Cancer Res. 2012; 18: 1769-1776.
38. Affolter K, Samowitz W, Tripp S, et al. BRAF V600E mutation detection by immunohistochemistry in colorectal carcinoma. Genes Chromosomes Cancer. 2013; 52: 748-752.
39. Thiel A, Heinonen M, Kantonen J, et al. BRAF mutation in sporadic colorectal cancer and Lynch syndrome. Virchows Arch. 2013; 463: 613-621.