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BRAF
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Interpretation 33
Tier 2
BRAF
Variants
BRAF V600D
BRAF V600E
BRAF V600K
BRAF V600R
BRAF codon(s) 600 any
BRAF any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Chronic Lymphocytic Leukemia
Diffuse Large B Cell Lymphoma
Interpretation

B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. Mutations of B-RAF have been described in up to 100% of Hairy cell leukemia, 40-70% of Langerhans cell histiocytosis, approximately 50% of Erdheim-Chester disease, approximately 5% of diffuse large B cell lymphoma and plasma cell neoplasms and less than 5% of chronic lymphocytic leukemia. While some reports have found that 10-20% of cases of acute leukemias (ALL or AML) may have BRAF mutations, other reports have described no BRAF in those diseases or in myeloid diseases such as MDS or CML. The hotspot for mutations in BRAF is at codon Val600 and these are activating mutations. The most common activating mutation is p.Val600Glu(V600E). Various B-Raf inhibitors(Vemurafenib, Dabrafenib) have been FDA approved for therapy for some tumor types in certain clinical settings.

Citations
  1. Machnicki MM, et al. BRAF--a new player in hematological neoplasms. Blood Cells Mol Dis 2014;53(1-2):77-83
  2. Alonso CM, et al. BRAF V600E mutation in adult acute lymphoblastic leukemia. Leuk Lymphoma 2013;54(5):1105-6
  3. Langabeer SE, et al. Incidence of the BRAF V600E mutation in chronic lymphocytic leukaemia and prolymphocytic leukaemia. Leuk Res 2012;36(4):483-4
  4. Jebaraj BM, et al. BRAF mutations in chronic lymphocytic leukemia. Leuk Lymphoma 2013;54(6):1177-82
  5. Ping N, et al. Absence of BRAF V600E mutation in hematologic malignancies excluding hairy-cell leukemia. Leuk Lymphoma 2012;53(12):2498-9
  6. Samuel J, et al. Efficacy of vemurafenib in hairy-cell leukemia. N Engl J Med 2014;370(3):286-8
Last updated: 2018-11-12 20:40:44 UTC
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