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IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria

A Yosifova

A Yosifova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Yosifova, A
, 
I Micheva

I Micheva

University Multiprofessional Hospital for Active Treatment “Sveta Marina”Varna, Bulgaria
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Micheva, I
, 
M Donchev

M Donchev

National Specialized Hospital for Active Treatment of Hematological Diseases, Clinical Hematology Department 1Sofia, Bulgaria
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Donchev, M
, 
S Tincheva

S Tincheva

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Tincheva, S
, 
S Ormandjiev

S Ormandjiev

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Ormandjiev, S
, 
J Genova

J Genova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Genova, J
, 
Z Pavlova

Z Pavlova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Pavlova, Z
 and 
A Todorova

A Todorova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Todorova, A
  
Sep 06, 2024
IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria's Cover Image
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Article Category: Original Article
Published Online: Sep 06, 2024
Page range: 15 - 19
DOI: https://doi.org/10.2478/bjmg-2024-0003
Keywords
© 2024 A Yosifova et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Structure of immunoglobulin heavy chain variable region.VH – variable region of heavy chain; VL – variable region of light chain; V – variable segment; D – diversity segment; J – junctional segment; CDR – complementarity-determining region; FR – framework region
Structure of immunoglobulin heavy chain variable region.VH – variable region of heavy chain; VL – variable region of light chain; V – variable segment; D – diversity segment; J – junctional segment; CDR – complementarity-determining region; FR – framework region

Figure 2.

Locations of the primers for V-D-J gene rearrangements.5′ IGHV Leader primers are located upstream of the IGHV coding sequence; 5′ IGHV FR1 (framework) primers are located within the rearranged IGHV gene; 3′ IGHJ primers are located at the end of the rearranged IGHJ gene; UTR – untranslated region
Locations of the primers for V-D-J gene rearrangements.5′ IGHV Leader primers are located upstream of the IGHV coding sequence; 5′ IGHV FR1 (framework) primers are located within the rearranged IGHV gene; 3′ IGHJ primers are located at the end of the rearranged IGHJ gene; UTR – untranslated region

Figure 3.

Distribution of Bulgarian CLL patients by their IGHV mutational status.57 patients – unmutated IGHV; 44 patients – mutated IGHV; 4 patients – Borderline IGHV
Distribution of Bulgarian CLL patients by their IGHV mutational status.57 patients – unmutated IGHV; 44 patients – mutated IGHV; 4 patients – Borderline IGHV

Discordant mutational status in case with multiple IGHV rearrangements

IGHV gene IGHV status Identity % CDR3 amino-acid length Results
IGHV2-70 unmutated 100 19 Unmutated
IGHV3-30 mutated 96,53 16
IGHV4-4 mutated 91,32 14

Clinico-biological features and genetic characteristics of mutated and unmutated cases

Patients Leukocytes count (4.5 to 10×109 /L)* General condition (Fit) Treatment 17p deletion Common IGHV genes BCR stereotyped subsets (n)
44 mutated 15–180 Good condition Newly diagnosed; Before first treatment Negative

IGHV1-2 (4)

IGHV3-7 (6)

IGHV3-23 (4)

IGHV4-34 (4)

IGHV4-59 (4)

 CLL#77 (1)
57 unmutated 17–328

IGHV1-69 (17)

IGHV3-23(4)

IGHV5-51 (5)

CLL#2 (1)

CLL#5 (1)

CLL#6 (2)

CLL#8 (1)

CLL#99 (1)

Fisher’s Exact test for correlation between the region of origin of the patients and their IGHV mutational status_

Origin of samples
IGHV mutational status Varna (N) Others (N)
U-CLL* 17 41
M-CLL* 5 38
B-CLL* 2 2
two-tailed p value (α = 0.05) 0.028
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