Loading...
Hairy cell leukemia (HCL) is an indolent B-cell lymphoproliferative disorder that responds to several highly effective therapies. Although HCL has characteristic morphologic and phenotypic features, no disease-associated molecular markers have been identified.
To search for such features, investigators performed whole-exome sequencing of leukemic- and nonleukemic-cell DNA from a patient with HCL and identified mutated BRAF in the leukemic cells. They then analyzed BRAF mutations in DNA from 47 additional HCL patients using polymerase chain reaction (PCR) and DNA sequencing.
Remarkably, all 48 HCL patients carried a point mutation in BRAF exon 15, resulting in a V600E amino acid substitution (glutamic acid for valine). Of the 10 patients who h…