TY - JOUR
T1 - The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms
AU - Arcaini, Luca
AU - Zibellini, Silvia
AU - Boveri, Emanuela
AU - Riboni, Roberta
AU - Rattotti, Sara
AU - Varettoni, Marzia
AU - Guerrera, Maria Luisa
AU - Lucioni, Marco
AU - Tenore, Annamaria
AU - Merli, Michele
AU - Rizzi, Silvia
AU - Morello, Lucia
AU - Cavalloni, Chiara
AU - Da Vià, Matteo C.
AU - Paulli, Marco
AU - Cazzola, Mario
PY - 2012/1/5
Y1 - 2012/1/5
N2 - 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.
AB - 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.
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U2 - 10.1182/blood-2011-08-368209
DO - 10.1182/blood-2011-08-368209
M3 - Article
C2 - 22072557
AN - SCOPUS:84855590382
VL - 119
SP - 188
EP - 191
JO - Blood
JF - Blood
SN - 0006-4971
IS - 1
ER -