Volumen: 20 # Number : 3
Publication Date : Septiembre - Diciembre Year: 2016
IGHV gene rearrangements and mutational status
in chronic lymphocytic leukemia
and mantle cell lymphoma patients
Authors: Stanganelli C, Dos Santos P, Panero J,
Santana BA, Calado R, Slavutsky I
Abstract: The mutational status of IGHV (immunoglobulin
heavy chain variable region) gene is considered an
important prognostic factor in chronic lymphocytic
leukemia (CLL), nevertheless its clinical usefulness
in mantle cell lymphoma (MCL) requires a more
extensive evaluation. In both pathologies, the
analysis of the literature showed bias repertoire,
with higher representation of VH3, VH4 and VH1
families, as well as a differential usage of IGHV
genes. In this study, we have performed the analysis
of IGHV mutational status and gene rearrangements
as well as the evaluation of the presence of
stereotyped receptors, in an Argentinean cohort of
174 CLL patients and 31 cases of Brazilian patients
with MCL. In CLL, a greater diversity of genes
was observed, being the most frequent: IGHV1-69,
IGHV3-23, IGHV4-34, IGHV3-21 and IGHV3-48
(34.1% of the total), while in MCL a very small
repertoire including: IGHV3-21, IGHV4-34, IGHV3-
23 and IGHV4-39 (66.7% of total), was found. In
addition, MCL had a lower mutational load compared
to CLL. In MCL only 3.2% of the cases presented
stereotyped receptors, whereas in CLL this value
reached 14.2%, being the most represented clusters
#2, #7 and #9. Our data and previous reports in the
literature support the presence of antigenic stimuli
in the development and pathogenesis of both entities
with specific characteristics in each of them. In CLL,
the analysis of stereotypic receptors could refine
the clinical outcome on beyond immunoglobulin
mutational status.
Key words: Chronic lymphocytic leukemia,
Mantle cell lymphoma,
IGHV,
Somatic hypermutation,
Stereotyped B-cell receptors
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