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

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

Balkan Journal of Medical Genetics
Volume 27 (2024): Issue 1 (June 2024)
By: A Yosifova,  I Micheva,  M Donchev,  S Tincheva,  S Ormandjiev,  J Genova,  Z Pavlova and  A Todorova  
Open Access
|Sep 2024

Figures & Tables

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 geneIGHV statusIdentity %CDR3 amino-acid lengthResults
IGHV2-70unmutated10019Unmutated
IGHV3-30mutated96,5316
IGHV4-4mutated91,3214

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

PatientsLeukocytes count (4.5 to 10×109 /L)*General condition (Fit)Treatment17p deletionCommon IGHV genesBCR stereotyped subsets (n)
44 mutated15–180Good conditionNewly diagnosed; Before first treatmentNegative

  • IGHV1-2 (4)

  • IGHV3-7 (6)

  • IGHV3-23 (4)

  • IGHV4-34 (4)

  • IGHV4-59 (4)

CLL#77 (1)
57 unmutated17–328

  • 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 statusVarna (N)Others (N)
U-CLL*1741
M-CLL*538
B-CLL*22
two-tailed p value (α = 0.05)0.028
DOI: https://doi.org/10.2478/bjmg-2024-0003 | Journal eISSN: 2199-5761
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Language: English
Page range: 15 - 19
Published on: Sep 6, 2024
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
CLL,
IGHV mutational status,
multiple rearrangements
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2024 A Yosifova, I Micheva, M Donchev, S Tincheva, S Ormandjiev, J Genova, Z Pavlova, A Todorova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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