The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms.
Blood
; 119(1): 188-91, 2012 Jan 05.
Article
de En
| MEDLINE
| ID: mdl-22072557
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.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Leucémie B
/
Leucémie à tricholeucocytes
/
Lymphome B
/
Mutation ponctuelle
/
Protéines proto-oncogènes B-raf
Limites:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Langue:
En
Journal:
Blood
Année:
2012
Type de document:
Article
Pays d'affiliation:
Italie