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BRAF
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Interpretation 2276
Tier 1
BRAF
Variants
BRAF V600D
BRAF V600E
BRAF V600K
BRAF V600R
BRAF codon(s) 600 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Hairy Cell Leukemia
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. Some types of Hairy Cell Leukemia (eg, Hairy Cell Leukemia-Variant, Hairy Cell Leukemia with IgHV4-34 rearrangement) are negative for BRAF V600E mutation and may have MAP2K1 mutations. 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). B-Raf inhibitors(eg, Vemurafenib) have been FDA approved for therapy for various tumor types and have been used in Hairy Cell Leukemia in some clinical settings, including in combination with other therapy.

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
  7. Falini B, et al. BRAF V600E mutation in hairy cell leukemia: from bench to bedside. Blood 2016;128(15):1918-1927
  8. National Comprehensive Cancer Network, Clinical Practice Guidelines in Oncology. Hairy Cell Leukemia. Version 2.2018.
  9. Tiacci E, et al. Targeting Mutant BRAF in Relapsed or Refractory Hairy-Cell Leukemia. N Engl J Med 2015;373(18):1733-47
  10. Dietrich S, et al. BRAF inhibition in hairy cell leukemia with low-dose vemurafenib. Blood 2016;127(23):2847-55
Last updated: 2018-11-12 20:40:47 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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