BRAF - A new player in hematological neoplasms

Blood Cells, Molecules, and Diseases

Volumn 53, Issue 1-2, 2014, Pages 77-83

  Machnicki, Marcin M ^a   Stoklosa, Tomasz ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

BRAF kinase; Histiocytosis; Leukemia; V600E mutation

Indexed keywords

B RAF KINASE; BRAF PROTEIN, HUMAN;

BRAF GENE; CANCER RISK; DISEASE ASSOCIATION; ERDHEIM CHESTER DISEASE; GENE FREQUENCY; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; HAIRY CELL LEUKEMIA; HEMATOLOGIC MALIGNANCY; HUMAN; LANGERHANS CELL HISTIOCYTOSIS; LYMPHOPROLIFERATIVE DISEASE; MULTIPLE MYELOMA; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SIGNAL TRANSDUCTION; ANIMAL; ANTAGONISTS AND INHIBITORS; GENETICS; HEMATOLOGIC NEOPLASMS; METABOLISM; MOLECULARLY TARGETED THERAPY; MUTATION;

ANIMALS; HEMATOLOGIC NEOPLASMS; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 84900024376     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2014.01.001     Document Type: Review

References (100)

1. Davies H., Bignell G.R., Cox C., et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417:949-954.
2. Stephens R.M., Sithanandam G., Copeland T.D., et al. 95-kilodalton B-Raf serine/threonine kinase: identification of the protein and its major autophosphorylation site. Mol. Cell. Biol. 1992, 12:3733-3742.
3. Domingo E., Schwartz S.J. BRAF (v-raf murine sarcoma viral oncogene homolog B1). Atlas Genet Cytogenet Oncol Haematol 2004.
4. Greenman C., Stephens P., Smith R., et al. Patterns of somatic mutation in human cancer genomes. Nature 2007, 446:153-158.
5. Garnett M.J., Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 2004, 6:313-319.
6. Wan P.T., Garnett M.J., Roe S.M., et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004, 116:855-867.
7. Hoshino R., Chatani Y., Yamori T., et al. Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors. Oncogene 1999, 18:813-822.
8. Pollock P.M., Harper U.L., Hansen K.S., et al. High frequency of BRAF mutations in nevi. Nat. Genet. 2003, 33:19-20.
9. Michaloglou C., Vredeveld L.C., Soengas M.S., et al. BRAFE600-associated senescence-like cell cycle arrest of human naevi. Nature 2005, 436:720-724.
10. Raabe E.H., Lim K.S., Kim J.M., et al. BRAF activation induces transformation and then senescence in human neural stem cells: a pilocytic astrocytoma model. Clin. Cancer Res. 2011, 17:3590-3599.
11. Serrano M., Lin A.W., McCurrach M.E., Beach D., Lowe S.W. Oncogenic ras provokes premature cell senescence associated with accumulation of p53 and p16INK4a. Cell 1997, 88:593-602.
12. Hingorani S.R., Jacobetz M.A., Robertson G.P., Herlyn M., Tuveson D.A. Suppression of BRAF(V599E) in human melanoma abrogates transformation. Cancer Res. 2003, 63:5198-5202.
13. Solit D.B., Garraway L.A., Pratilas C.A., et al. BRAF mutation predicts sensitivity to MEK inhibition. Nature 2006, 439:358-362.
14. Nakayama N., Nakayama K., Yeasmin S., et al. KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. Br. J. Cancer 2008, 99:2020-2028.
15. Safaee Ardekani G., Jafarnejad S.M., Tan L., Saeedi A., Li G. The prognostic value of BRAF mutation in colorectal cancer and melanoma: a systematic review and meta-analysis. PLoS One 2012, 7:e47054.
16. Kim T.H., Park Y.J., Lim J.A., et al. The association of the BRAF(V600E) mutation with prognostic factors and poor clinical outcome in papillary thyroid cancer: a meta-analysis. Cancer 2012, 118:1764-1773.
17. Grisham R.N., Iyer G., Garg K., et al. BRAF mutation is associated with early stage disease and improved outcome in patients with low-grade serous ovarian cancer. Cancer 2013, 119:548-554.
18. Di Nicolantonio F., Martini M., Molinari F., et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J. Clin. Oncol. 2008, 26:5705-5712.
19. Chapman P.B., Hauschild A., Robert C., et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N. Engl. J. Med. 2011, 364:2507-2516.
20. Kotoula V., Sozopoulos E., Litsiou H., et al. Mutational analysis of the BRAF, RAS and EGFR genes in human adrenocortical carcinomas. Endocr. Relat. Cancer 2009, 16:565-572.
21. He M., Breese V., Hang S., et al. BRAF V600E mutations in endometrial adenocarcinoma. Diagn. Mol. Pathol. 2013, 22:35-40.
22. Weber A., Langhanki L., Sommerer F., et al. Mutations of the BRAF gene in squamous cell carcinoma of the head and neck. Oncogene 2003, 22:4757-4759.
23. Cohen Y., Xing M., Mambo E., et al. BRAF mutation in papillary thyroid carcinoma. J. Natl. Cancer Inst. 2003, 95:625-627.
24. Marchetti A., Felicioni L., Malatesta S., et al. Clinical features and outcome of patients with non-small-cell lung cancer harboring BRAF mutations. J. Clin. Oncol. 2011, 29:3574-3579.
25. Colombino M., Sperlongano P., Izzo F., et al. BRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy. Cell Death Dis. 2012, 3:e259.
26. 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.
27. Tiacci E., Trifonov V., Schiavoni G., et al. BRAF mutations in hairy-cell leukemia. N. Engl. J. Med. 2011, 364:2305-2315.
28. Arcaini L., Zibellini S., Boveri E., et al. The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms. Blood 2012, 119:188-191.
29. Jones D.T., Kocialkowski S., Liu L., et al. Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma. Oncogene 2009, 28:2119-2123.
30. 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.
31. Badalian-Very G., Vergilio J.A., Degar B.A., et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010, 116:1919-1923.
32. Emile J.F., Charlotte F., Amoura Z., Haroche J. BRAF mutations in Erdheim-Chester disease. J. Clin. Oncol. 2013, 31:398.
33. Haroche J., Charlotte F., Arnaud L., et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood 2012, 120:2700-2703.
34. Rodriguez-Viciana P., Tetsu O., Tidyman W.E., et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006, 311:1287-1290.
35. Klein O., Clements A., Menzies A.M., et al. BRAF inhibitor activity in V600R metastatic melanoma. Eur. J. Cancer 2013, 49:1073-1079.
36. Rubinstein J.C., Sznol M., Pavlick A.C., et al. Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. J. Transl. Med. 2010, 8:67.
37. Dahiya S., Yu J., Kaul A., Leonard J.R., Gutmann D.H. Novel BRAF alteration in a sporadic pilocytic astrocytoma. Case Rep. Med. 2012, 2012:418672.
38. Forbes S.A., Bindal N., Bamford S., et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 2011, 39:D945-D950.
39. Bollag G., Hirth P., Tsai J., et al. Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. Nature 2010, 467:596-599.
40. Laquerre S., Arnone M., Moss K., et al. Abstract B88: a selective Raf kinase inhibitor induces cell death and tumor regression of human cancer cell lines encoding B-Raf V600E mutation. Mol. Cancer Ther. 2009, 8(12 Suppl):B88.
41. Hauschild A., Grob J.J., Demidov L.V., et al. Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet 2012, 380:358-365.
42. Prahallad A., Sun C., Huang S., et al. Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Nature 2012, 483:100-103.
43. Poulikakos P.I., Persaud Y., Janakiraman M., et al. RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). Nature 2011, 480:387-390.
44. Emery C.M., Vijayendran K.G., Zipser M.C., et al. MEK1 mutations confer resistance to MEK and B-RAF inhibition. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:20411-20416.
45. Flaherty K.T., Infante J.R., Daud A., et al. Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N. Engl. J. Med. 2012, 367:1694-1703.
46. Long G.V., Trefzer U., Davies M.A., 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.
47. Ponti G., Pellacani G., Tomasi A., et al. The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations. J. Clin. Pathol. 2013, 66:441-445.
48. Kopetz S., Desai J., Chan E., et al. PLX4032 in metastatic colorectal cancer patients with mutant BRAF tumors. J. Clin. Oncol. 2010, 28. (15s suppl; abstr 3534).
49. Kim K., Cabanillas M., Lazar A.J., et al. Clinical responses to vemurafenib in patients with metastatic papillary thyroid cancer harboring V600EBRAF mutation. Thyroid 2013, 23:1277-1283.
50. Langabeer S.E., Quinn F., O'Brien D., et al. Incidence of the BRAF V600E mutation in chronic lymphocytic leukaemia and prolymphocytic leukaemia. Leuk. Res. 2012, 36:483-484.
51. Jebaraj B.M., Kienle D., Buhler A., et al. BRAF mutations in chronic lymphocytic leukemia. Leuk. Lymphoma 2013, 54:1177-1182.
52. Zhang X., Reis M., Khoriaty R., et al. Sequence analysis of 515 kinase genes in chronic lymphocytic leukemia. Leukemia 2011, 25:1908-1910.
53. Quesada V., Conde L., Villamor N., et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat. Genet. 2012, 44:47-52.
54. Lee J.W., Soung Y.H., Park W.S., et al. BRAF mutations in acute leukemias. Leukemia 2004, 18:170-172.
55. Gustafsson B., Angelini S., Sander B., et al. Mutations in the BRAF and N-ras genes in childhood acute lymphoblastic leukaemia. Leukemia 2005, 19:310-312.
56. Smith M.L., Snaddon J., Neat M., et al. Mutation of BRAF is uncommon in AML FAB type M1 and M2. Leukemia 2003, 17:274-275.
57. Davidsson J., Lilljebjorn H., Panagopoulos I., Fioretos T., Johansson B. BRAF mutations are very rare in B- and T-cell pediatric acute lymphoblastic leukemias. Leukemia 2008, 22:1619-1621.
58. Case M., Matheson E., Minto L., et al. Mutation of genes affecting the RAS pathway is common in childhood acute lymphoblastic leukemia. Cancer Res. 2008, 68:6803-6809.
59. Trifa A.P., Popp R.A., Cucuianu A., et al. Absence of BRAF V600E mutation in a cohort of 402 patients with various chronic and acute myeloid neoplasms. Leuk. Lymphoma 2012, 53:2496-2497.
60. Lee J.W., Yoo N.J., Soung Y.H., et al. BRAF mutations in non-Hodgkin's lymphoma. Br. J. Cancer 2003, 89:1958-1960.
61. Lohr J.G., Stojanov P., Lawrence M.S., et al. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:3879-3884.
62. Aggarwal N., Swerdlow S.H., Kelly L.M., et al. Thyroid carcinoma-associated genetic mutations also occur in thyroid lymphomas. Mod. Pathol. 2012, 25:1203-1211.
63. Bonello L., Voena C., Ladetto M., et al. BRAF gene is not mutated in plasma cell leukemia and multiple myeloma. Leukemia 2003, 17:2238-2240.
64. Ng M.H., Lau K.M., Wong W.S., et al. Alterations of RAS signalling in Chinese multiple myeloma patients: absent BRAF and rare RAS mutations, but frequent inactivation of RASSF1A by transcriptional silencing or expression of a non-functional variant transcript. Br. J. Haematol. 2003, 123:637-645.
65. Velangi M., Matheson E., Taylor P., et al. BRAF gene is not mutated in mismatch repair-proficient or -deficient plasma cell dyscrasias. Leukemia 2004, 18:658-659.
66. Chapman M.A., Lawrence M.S., Keats J.J., et al. Initial genome sequencing and analysis of multiple myeloma. Nature 2011, 471:467-472.
67. Mosca L., Musto P., Todoerti K., et al. Genome-wide analysis of primary plasma cell leukemia identifies recurrent imbalances associated with changes in transcriptional profiles. Am. J. Hematol. 2013, 88:16-23.
68. Boyd E.M., Bench A.J., van 't Veer M.B., et al. High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. Br. J. Haematol. 2011, 155:609-612.
69. Andrulis M., Lehners N., Capper D., et al. Targeting the BRAF V600E mutation in multiple myeloma. Cancer Discov. 2013, 3:862-869.
70. Fukushima T., Suzuki S., Mashiko M., et al. BRAF mutations in papillary carcinomas of the thyroid. Oncogene 2003, 22:6455-6457.
71. Blombery P.A., Wong S.Q., Hewitt C.A., et al. Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. Haematologica 2012, 97:780-783.
72. Tiacci E., Schiavoni G., Martelli M.P., et al. Constant activation of the RAF-MEK-ERK pathway as a diagnostic and therapeutic target in hairy cell leukemia. Haematologica 2013, 98:635-639.
73. Jones G., Parry-Jones N., Wilkins B., Else M., Catovsky D. Revised guidelines for the diagnosis and management of hairy cell leukaemia and hairy cell leukaemia variant*. Br. J. Haematol. 2012, 156:186-195.
74. Grever M.R. How I treat hairy cell leukemia. Blood 2010, 115:21-28.
75. Forconi F. Hairy cell leukaemia: biological and clinical overview from immunogenetic insights. Hematol. Oncol. 2011, 29:55-66.
76. Xi L., Arons E., Navarro W., et al. Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. Blood 2012, 119:3330-3332.
77. Andrulis M., Penzel R., Weichert W., von Deimling A., Capper D. Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. Am. J. Surg. Pathol. 2012, 36:1796-1800.
78. Schnittger S., Bacher U., Haferlach T., et al. Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia. Blood 2012, 119:3151-3154.
79. Else M., Dearden C.E., Matutes E., et al. Long-term follow-up of 233 patients with hairy cell leukaemia, treated initially with pentostatin or cladribine, at a median of 16 years from diagnosis. Br. J. Haematol. 2009, 145:733-740.
80. Dietrich S., Glimm H., Andrulis M., et al. BRAF inhibition in refractory hairy-cell leukemia. N. Engl. J. Med. 2012, 366:2038-2040.
81. Follows G.A., Sims H., Bloxham D.M., et al. Rapid response of biallelic BRAF V600E mutated hairy cell leukaemia to low dose vemurafenib. Br. J. Haematol. 2013, 161:150-153.
82. Peyrade F., Re D., Ginet C., et al. Low-dose vemurafenib induces complete remission in a case of hairy-cell leukemia with a V600E mutation. Haematologica 2013, 98:e20-e22.
83. Tiacci E., Pucciarini A., Bigerna B., et al. Absence of BRAF-V600E in the human cell lines BONNA-12, ESKOL, HAIR-M, and HC-1 questions their origin from hairy cell leukemia. Blood 2012, 119:5332-5333.
84. Weston-Bell N.J., Hendriks D., Sugiyarto G., et al. Hairy cell leukemia cell lines expressing annexin A1 and displaying B-cell receptor signals characteristic of primary tumor cells lack the signature BRAF mutation to reveal unrepresentative origins. Leukemia 2013, 27:241-245.
85. Abla O., Egeler R.M., Weitzman S. Langerhans cell histiocytosis: current concepts and treatments. Cancer Treat. Rev. 2010, 36:354-359.
86. Badalian-Very G., Vergilio J.A., Degar B.A., Rodriguez-Galindo C., Rollins B.J. Recent advances in the understanding of Langerhans cell histiocytosis. Br. J. Haematol. 2012, 156:163-172.
87. Ng-Cheng-Hin B., O'Hanlon-Brown C., Alifrangis C., Waxman J. Langerhans cell histiocytosis: old disease new treatment. QJM 2011, 104:89-96.
88. Mazor R.D., Kesler A., Shoenfeld Y. Erdheim-Chester disease: an orphan condition seeking treatment. Isr. Med. Assoc. J. 2012, 14:388-389.
89. Veyssier-Belot C., Cacoub P., Caparros-Lefebvre D., et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 1996, 75:157-169.
90. Arnaud L., Hervier B., Neel A., et al. CNS involvement and treatment with interferon-alpha are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood 2011, 117:2778-2782.
91. Badalian-Very G., Vergilio J.A., Fleming M., Rollins B.J. Pathogenesis of Langerhans cell histiocytosis. Annu. Rev. Pathol. 2013, 8:1-20.
92. Chetritt J., Paradis V., Dargere D., et al. Chester-Erdheim disease: a neoplastic disorder. Hum. Pathol. 1999, 30:1093-1096.
93. Willman C.L., Busque L., Griffith B.B., et al. Langerhans'-cell histiocytosis (histiocytosis X)-a clonal proliferative disease. N. Engl. J. Med. 1994, 331:154-160.
94. Sahm F., Capper D., Preusser M., et al. BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis. Blood 2012, 120:e28-e34.
95. Kansal R., Quintanilla-Martinez L., Datta V., et al. Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign Langerhans cell histiocytosis. Genes Chromosomes Cancer 2013, 52:99-106.
96. Satoh T., Smith A., Sarde A., et al. B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS One 2012, 7:e33891.
97. Pineles S.L., Liu G.T., Acebes X., et al. Presence of Erdheim-Chester disease and Langerhans cell histiocytosis in the same patient: a report of 2 cases. J. Neuroophthalmol. 2011, 31:217-223.
98. Haroche J., Cohen-Aubart F., Emile J.F., et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood 2013, 121:1495-1500.
99. Hatzivassiliou G., Song K., Yen I., et al. RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. Nature 2010, 464:431-435.
100. Yousem S.A., Dacic S., Nikiforov Y.E., Nikiforova M. Pulmonary Langerhans cell histiocytosis: profiling of multifocal tumors using next-generation sequencing identifies concordant occurrence of BRAF V600E mutations. Chest 2013, 143:1679-1684.