Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation

Blood. 2012 Apr 5;119(14):3330-2. doi: 10.1182/blood-2011-09-379339. Epub 2011 Dec 30.

Abstract

Recently, the BRAF V600E mutation was reported in all cases of hairy cell leukemia (HCL) but not in other peripheral B-cell neoplasms. We wished to confirm these results and assess BRAF status in well-characterized cases of HCL associated with poor prognosis, including the immunophenotypically defined HCL variant (HCLv) and HCL expressing the IGHV4-34 immunoglobulin rearrangement. Fifty-three classic HCL (HCLc) and 16 HCLv cases were analyzed for BRAF, including 5 HCLc and 8 HCLv expressing IGHV4-34. BRAF was mutated in 42 (79%) HCLc, but wild-type in 11 (21%) HCLc and 16 (100%) HCLv. All 13 IGHV4-34(+) HCLs were wild-type. IGHV gene usage in the 11 HCLc BRAF wild-type cases included 5 IGHV4-34, 5 other, and 1 unknown. Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Amino Acid Substitution
  • Gene Expression
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Variable Region / genetics*
  • Leukemia, Hairy Cell / genetics*
  • Mutation*
  • Proto-Oncogene Proteins B-raf / genetics*

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf