Molecular Pathology Laboratory Network

Research presented in the N Engl J Med 2011; 364:2305-2315 and at the 16th Congress of the European Hematology Association (EHA June 2011) indicated that the BRAF V6090 mutation may have implications for pathogenesis, diagnosis and targeted therapy of Hairy Cell Leukemia (HCL).

The study, using genome sequencing, found 100% of 47 HCL cases carried the BRAF V600E mutation, while samples from 195 patients with peripheral B-cell lymphomas and leukemias did not carry the BRAF V600E variant. This finding contrasts with other studies, where the frequency of mutations found in the genomes of tumors sequenced were rarely above 20% to 30%. It is worth noting there are only a few uniform diseases based on one mutation, including BCR/ABL mutation in chronic myeloid leukemia.

Current treatment protocols for HCL result in numerous side effects, with 40% of patients relapsing within 10 years and subsequent remissions often not as durable. The findings from this study is likely to pave the way for identifying novel agents targeted to HCL patient response.

To assist physicians with identifying BRAF mutations in HCL cases, MPLN offers BRAF Mutation Analysis. For more information about this test, contact a client service specialist at 800-932-2943.