ABSTRACT
Introduction:
Hairy cell leukemia (HCL) is a B-
cell non-Hodgkin lymphoma with distinct clinical, morphological and immunophenotypic features; however, there are many other
B-cell lymphomas, which closely mimic HCL. Accurate
diagnosis of HCL is important as
treatment with 2-chloro-2’-deoxyadenosine (
cladribine) is associated with >80% chance of complete
cure. The recent description of BRAF p.V600E
mutations in almost all HCL cases in various studies has not only improved the pathogenetic
understanding of this entity but also increased the diagnostic accuracy of this disorder.
Aim:
The aim of the study was to standardize a molecular test for
diagnosis of HCL and compare with standard established morphological, cytochemical and immunophenotypic
parameters for HCL
diagnosis. Materials and
Methods:
The
incidence of this
mutation was sought in 20
patients with either classical HCL or HCL variant (HCLv) by Sanger sequencing and
allele-specifi c
polymerase chain reaction. BRAF p.V600E
mutation was present in all HCL cases and absent in the only HCLv case.
Results:
A high degree of correlation was noted between the presence of BRAF p.V600E and established diagnostic criteria in 20/20
patients with HCL/ HCLv. Our data supports the
observation that this
mutation is present in all cases of HCL and is absent in HCLv. Hence,
detection of the BRAF p. V600E
mutation can be a useful adjunct in the diagnostic
algorithm.