Monday, June 13, 2011 (Last Updated: 06/14/2011)
MONDAY, June 13 (HealthDay News) -- The BRAF V600E mutation is associated with hairy-cell leukemia (HCL), according to a study published online June 11 in the New England Journal of Medicine to coincide with its presentation at the 16th Congress of the European Hematology Association, held from June 9 to 12 in London.
Enrico Tiacci, M.D., from the University of Perugia in Italy, and colleagues identified HCL-associated mutations by performing massively parallel sequencing of the whole exome of leukemic and matched normal cells in the purified peripheral blood of an index patient with HCL. The findings were validated by Sanger sequencing of an additional 47 patients with HCL and 195 patients with other peripheral B-cell lymphomas or leukemias.
The investigators identified five missense somatic clonal mutations in the index patient, including a heterozygous mutation in BRAF, that were confirmed by Sanger sequencing. The BRAF mutation resulted in a BRAF V600E variant protein and was identified in all 47 additional patients with HCL. This mutation was not identified in any patients with peripheral B-cell lymphoma or leukemia, including 38 patients with splenic marginal zone lymphoma or unclassifiable splenic lymphomas or leukemias.
"The BRAF V600E mutation was present in all patients with HCL who were evaluated," the authors write.
Hematology & Oncology
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