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. 2025 Jan 1;26(1):109-115.
doi: 10.31557/APJCP.2025.26.1.109.

Association of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India

Samson Mani  1 , Srinidhi Nathany  1 , Himanshi Diwan  1 , Anurag Mehta  1
Affiliations

Association of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India

Samson Mani et al. Asian Pac J Cancer Prev. .

Abstract

Chronic lymphocytic leukemia (CLL) is a less common hematological malignancy in Indian people. It accounts for less than 5% of all leukemias. Information on genomic alteration in CLL is limited immunoglobulin heavy-chain variable region (IGHV) mutational status is considered the most reliable prognostic marker. In this study, we performed mutation analysis of significantly mutated genes of CLL and correlated them with the IGHV mutational status and cytogenetic alterations. We included 97 patients in this study; 36 were IGHV hypermutated, and 61 were IGHV unmutated. We observed frequent mutations in TP53 (16.4%), ATM (19.5%), SF3B1 (18.5%), and NOTCH1 (14.2%). NOTCH1 mutations were significantly observed in patients with unmutated IGHV. We observed that patients with no mutations in ATM, NOTCH1, or TP53 had chromosomal alterations (del 11q, del 13q, del 17q, and trisomy 21) identified by FISH. Our results have shown mutations in essential genes and their association with IGHV status. Overall, specific gene mutations, IGHV status, and chromosomal alterations can provide information on prognosis.

Keywords: Chronic Lymphocytic Leukemia; NOTCH1; hematological malignancy.

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Figures

Figure 1
Figure 1
Pie Diagram Depicting Prevalence of Gene Mutation in the IGHV Unmutated Cases
Figure 2
Figure 2
Pie Diagram Depicting Prevalence of Gene Mutation in the IGHV Hypermutated Cases
Figure 3
Figure 3
Lolly Plot Showing the TP53 Mutation and It association with Various Physiologic Processes
See this image and copyright information in PMC

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References

    1. Kipps TJ, Stevenson FK, Wu CJ, Croce CM, Packham G, Wierda WG, et al. Chronic lymphocytic leukaemia. Nat Rev Dis Primers. 2017;3:16096. - PMC - PubMed
    1. Chiorazzi N, Rai KR, Ferrarini M. Chronic lymphocytic leukemia. N Engl J Med. 2005;352(8):804–15. - PubMed
    1. Huang YJ, Kuo MC, Chang H, Wang PN, Wu JH, Huang YM, et al. Distinct immunoglobulin heavy chain variable region gene repertoire and lower frequency of del(11q) in taiwanese patients with chronic lymphocytic leukaemia. Br J Haematol. 2019;187(1):82–92. - PMC - PubMed
    1. Hamblin TJ, Davis Z, Gardiner A, Oscier DG, Stevenson FK. Unmutated ig v(h) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood. 1999;94(6):1848–54. - PubMed
    1. Gaidano G, Rossi D. The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment. Hematology Am Soc Hematol Educ Program. 2017;2017(1):329–37. - PMC - PubMed

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