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Resources for Hematology Fellows

Image Challenge: 54-Year-Old Man With Abnormal Circulating Lymphocytes

Image courtesy of Peter Maslak, MD

What gene is mutated in nearly 100 percent of cases of this disease?

  1. Bcl2 
  2. SF3B1 
  3. BRAF 
  4. p53 

Answer

  1. BRAF

Explanation

In a recent study, the BRAF V600E mutation was identified in 100 percent of patients with hairy cell leukemia, and not in other lymphoproliferative disorders.1Case reports have documented the activity of BRAF inhibitors in relapsed/refractory hairy cell leukemia patients harboring BRAF V600E,2,3  and therefore clinical trials are currently underway to investigate agents such as vemurafenib in this population. 

Resources

  1. Arcaini L, Zibellini S, Boveri E, et al. . Blood. 2012;119:188-191. 
  2. Follows GA, Sims H, Bloxham DM, et al. . Br J Haematol. 2013;161:150-153. 
  3. Dietrich S, Glimm H, Andrulis M, et al. . N Engl J Med. 2012;366:2038-2040. 

Image challenge courtesy of Matthew Ulrickson, MD, University of Washington, Chair, Trainee Council

 

Citations