The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms

Luca Arcaini, Silvia Zibellini, Emanuela Boveri, Roberta Riboni, Sara Rattotti, Marzia Varettoni, Maria Luisa Guerrera, Marco Lucioni, Annamaria Tenore, Michele Merli, Silvia Rizzi, Lucia Morello, Chiara Cavalloni, Matteo C. Da Vià, Marco Paulli, Mario Cazzola

Research output: Contribution to journalArticlepeer-review

Abstract

The somatically acquired V600E mutation of the BRAF gene has been recently described as a molecular marker of hairy cell leukemia (HCL). We developed an allele-specific PCR for this mutation and studied 62 patients with HCL, 1 with HCL variant, 91 with splenic marginal zone lymphoma, 29 with Waldenström macroglobulinemia, and 57 with B-cell chronic lymphoproliferative disorders. The BRAF V600E mutation was detected in all HCL cases and in only 2 of the remaining 178 patients. These 2 subjects had B-cell chronic lymphoproliferative disorders that did not fulfill the diagnostic criteria for HCL. Despite the positive PCR finding, the mutation could not be detected by Sanger sequencing in these 2 cases, suggesting that it was associated with a small subclone. We conclude that the BRAF V600E mutation is present in all patients with HCL and that, in combination with clinical and morphologic features, represents a reliable molecular marker for this condition.

Original languageEnglish
Pages (from-to)188-191
Number of pages4
JournalBlood
Volume119
Issue number1
DOIs
Publication statusPublished - Jan 5 2012

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

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