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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

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

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

Figure 3.

Distribution of Bulgarian CLL patients by their IGHV mutational status.

57 patients – unmutated IGHV; 44 patients – mutated IGHV; 4 patients – Borderline IGHV

Table 1.

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)

* White blood cell (WBC) count range

n – number of patients

Table 2.

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

* U-CLL – unmutated; M-CLL – mutated; B-CLL - borderline

Table 3.

Discordant mutational status in case with multiple IGHV rearrangements

IGHV geneIGHV statusIdentity %CDR3 amino-acid lengthResults
IGHV2-70unmutated10019Unmutated
IGHV3-30mutated96,5316
IGHV4-4mutated91,3214
DOI: https://doi.org/10.2478/bjmg-2024-0003 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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

© 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.