Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Blood, 2012-01, Vol.119 (1), p.188-191

Ort / Verlag

Washington, DC: Elsevier Inc

Erscheinungsjahr

2012

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.