IGHV MUTATIONAL STATUS IN A COHORT OF BULGARIAN CLL PATIENTS: HIGH UNMUTATED CLL PREVALENCE IN NORTH-EAST BULGARIA
Yosifova A, Micheva I, Donchev M, Tincheva S, Ormandjiev S,
Genova J, Pavlova Z, Todorova A
*Corresponding Author: Angelina Yosifova, Genetic Medico-Diagnostic Laboratory “Genica”, Sofia,
Bulgaria. Email: andjim91@gmail.com; Phone: +359888979313
page: 15
|
|
INTRODUCTION
Chronic lymphocytic leukemia (CLL) is the most
common leukemia in adults and is a remarkably heteroge-
neous disease. Some of the patients present with an indolent
form and never require treatment, while others manifest
rapidly progressive disease, despite therapy. One of the
best established CLL prognostic markers is the somatic
hypermutational status of IGHV gene, which is a part of
the immunoglobulin heavy chain variable region [1].
B cell malignancies arise from clonal expansion of a
single mature B cell. The rearrangement of immunoglobu-
lin (IG) heavy chain genes is unique for all malignant B
cells of a patient and is used as a powerful prognostic
marker: IGHV mutational status. The individual IGHV
mutational status is examined in the context of its existing
prognostic values and the effect it has on personalized CLL
therapy [2]. The malignant B cells all have certain B cell
receptor (BCRs) signaling, mainly expressing certain IgM
and IgD isotypes. An important factor is the existing BCR
stereotypy among CLL patients with a possible effect on
the disease pathogenesis [3].
The assembly of the variable region of the immu-
noglobulin heavy chain in the process of formation and
maturation of the B-cells represents a chromosomal recom-
bination of V (variable), D (diversity), and J (junctional)
segments. The specificity of the antibody is determined by
three main complementarity-determining regions (CDRs)
and a relatively constant sequence called the framework re-
gion (FR). Every V segment encodes the first three frame-
work regions (FR1, FR2 and FR3) along with the CDR1
and CDR2 regions, as well as a part of the CDR3 region.
Each D segment covers CDR3 completely. The J segment
begins with its own recombination signal and encodes the
complete FR4, as well as a part of CDR3 [4,5] (Figure 1). This present study focusses on the implementation of
the IGHV mutational status analysis in a cohort of Bulgar-
ian CLL patients because of the high value of this marker
in determining the disease outcome and selecting the ap-
propriate treatment.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
