BRAF V600E-specific immunohistochemistry reveals low mutation rates in biliary tract cancer and restriction to intrahepatic cholangiocarcinoma

Modern Pathology

Volumn 27, Issue 7, 2014, Pages 1028-1034

  Goeppert, Benjamin ^a   Frauenschuh, Lena ^a   Renner, Marcus ^a   Roessler, Stephanie ^a   Stenzinger, Albrecht ^a   Klauschen, Frederick ^b   Warth, Arne ^a   Vogel, Monika Nadja ^c   Mehrabi, Arianeb ^a   Hafezi, Mohammadreza ^a   Boehmer, Katja ^a   Von Deimling, Andreas ^a,d   Schirmacher, Peter ^a   Weichert, Wilko ^a   Capper, David ^a,c,d  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

biliary tract cancer; BRAF; cholangiocarcinoma; immunohistochemistry; V600E; VE1

Indexed keywords

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

ADULT; AGED; ARTICLE; BILE DUCT CARCINOMA; BILIARY TRACT CANCER; BRAF GENE; CANCER PATIENT; FEASIBILITY STUDY; FEMALE; GALLBLADDER CARCINOMA; GENDER; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; ONCOGENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TISSUE MICROARRAY; BILE DUCT TUMOR; GENETICS; INTRAHEPATIC BILE DUCT; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; BILE DUCT NEOPLASMS; BILE DUCTS, INTRAHEPATIC; CHOLANGIOCARCINOMA; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; PROTO-ONCOGENE PROTEINS B-RAF; TISSUE ARRAY ANALYSIS;

EID: 84903763435     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2013.206     Document Type: Article

References (38)

1. Blechacz B, Komuta M, Roskams T, et al. Clinical diagnosis and staging of cholangiocarcinoma. Nat Rev Gastroenterol Hepatol 2011;8: 512-522
2. Hezel AF, Deshpande V, Zhu AX. Genetics of biliary tract cancers and emerging targeted therapies. J Clin Oncol 2010;28: 3531-3540
3. Schindler G, Capper D, Meyer J, et al. Analysis of BRAF V600E mutation in 1, 320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 2011;121: 397-405
4. Michaloglou C, Vredeveld LC, Mooi WJ, et al. BRAF(E600) in benign and malignant human tumours. Oncogene 2008;27: 877-895
5. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417: 949-954
6. Arkenau HT, Kefford R, Long GV. Targeting BRAF for patients with melanoma. Br J Cancer 2011;104: 392-398
7. Flaherty KT, Puzanov I, Kim KB, et al. Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 2010;363: 809-819
8. Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011;364: 2507-2516
9. Hauschild A, Grob JJ, Demidov LV, et al. Dabrafenib in BRAF-mutated metastatic melanoma: A multicentre, open-label, phase 3 randomised controlled trial. Lancet 2012;380: 358-365
10. Rush S, Foreman N, Liu A. Brainstem ganglioglioma successfully treated with vemurafenib. J Clin Oncol 2013;31: E159-e160
11. Kim K, Cabanillas M, Lazar AJ, et al. Clinical responses to vemurafenib in patients with metastatic papillary thyroid cancer harboring V600EBRAF mutation. Thyroid 2013;23: 1277-1283
12. Falchook GS, Long GV, Kurzrock R, et al. Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: A phase 1 dose-escalation trial. Lancet 2012;379: 1893-1901
13. Dietrich S, Glimm H, Andrulis M, et al. BRAF inhibition in refractory hairy-cell leukemia. N Engl J Med 2012;366: 2038-2040
14. Andrulis M, Lehners N, Capper D, et al. Targeting the BRAF V600E mutation in multiple myeloma. Cancer Discov 2013;3: 862-869
15. Skorokhod A, Capper D, von Deimling A, et al. Detection of BRAF V600E mutations in skin metastases of malignant melanoma by monoclonal antibody VE1. J Am Acad Dermatol 2012;67: 488-491
16. 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
17. 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
18. Lade-Keller J, Kristensen LS, Riber-Hansen R, et al. A role for immunohistochemical detection of BRAF V600E prior to BRAF-inhibitor treatment of malignant melanomä J Clin Pathol 2013;66: 723-725
19. 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
20. 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
21. 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
22. 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
23. Capper D, Voigt A, Bozukova G, et al. BRAF V600Especific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer. Int J Cancer 2013;133: 1624-1630
24. Koelsche C, Wohrer A, Jeibmann A, et al. Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. Acta Neuropathol 2013;125: 891-900
25. Andrulis M, Penzel R, Weichert W, et al. Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. Am J Surg Pathol 2012;36: 1796-1800
26. Voss JS, Holtegaard LM, Kerr SE, et al. Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions. Hum Pathol 2013;44: 1216-1222
27. Sia D, Hoshida Y, Villanueva A, et al. Integrative molecular analysis of intrahepatic cholangiocarcinoma reveals 2 classes that have different outcomes. Gastroenterology 2013;144: 829-840
28. Andersen JB, Spee B, Blechacz BR, et al. Genomic and genetic characterization of cholangiocarcinoma identifies therapeutic targets for tyrosine kinase inhibitors. Gastroenterology 2012;142: E15
29. Tannapfel A, Sommerer F, Benicke M, et al. Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. Gut 2003;52: 706-712
30. Saetta AA, Papanastasiou P, Michalopoulos NV, et al. Mutational analysis of BRAF in gallbladder carcinomas in association with K-ras and p53 mutations and microsatellite instability. Virchows Arch 2004;445: 179-182
31. Goldenberg D, Rosenbaum E, Argani P, et al. The V599E BRAF mutation is uncommon in biliary tract cancers. Mod Pathol 2004;17: 1386-1391
32. Borger DR, Tanabe KK, Fan KC, et al. Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broadbased tumor genotyping. Oncologist 2012;17: 72-79
33. Xing M, Alzahrani AS, Carson KA, et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA 2013;309: 1493-1501
34. Long GV, Menzies AM, Nagrial AM, et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol 2011;29: 1239-1246
35. 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
36. Capper D, Berghoff AS, Magerle M, et al. Immunohistochemical testing of BRAF V600E status in 1, 120 tumor tissue samples of patients with brain metastases. Acta Neuropathol 2012;123: 223-233
37. Long GV, Trefzer U, Davies MA, et al. Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): A multicentre, open-label, phase 2 trial. Lancet Oncol 2012;13: 1087-1095
38. Gentilcore G, Madonna G, Mozzillo N, et al. Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. BMC Cancer 2013;13: 17