Mani Samson, Nathany Srinidhi, Diwan Himanshi, Mehta Anurag
Principal Scientific Officer & Molecular Advisor, Rajiv Gandhi Cancer Institute & Research Centre, New Delhi, India.
Asian Pac J Cancer Prev. 2025 Jan 1;26(1):109-115. doi: 10.31557/APJCP.2025.26.1.109.
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.
慢性淋巴细胞白血病（CLL）在印度人群中是一种不太常见的血液系统恶性肿瘤。它占所有白血病的比例不到5%。关于CLL基因组改变的信息有限，免疫球蛋白重链可变区（IGHV）突变状态被认为是最可靠的预后标志物。在本研究中，我们对CLL显著突变基因进行了突变分析，并将其与IGHV突变状态和细胞遗传学改变相关联。本研究纳入了97例患者；36例IGHV高突变，61例IGHV未突变。我们观察到TP53（16.4%）、ATM（19.5%）、SF3B1（18.5%）和NOTCH1（14.2%）频繁发生突变。在IGHV未突变的患者中显著观察到NOTCH1突变。我们观察到ATM、NOTCH1或TP53无突变的患者通过荧光原位杂交（FISH）鉴定出染色体改变（11q缺失、13q缺失、17q缺失和21三体）。我们的结果显示了关键基因的突变及其与IGHV状态的关联。总体而言，特定基因突变、IGHV状态和染色体改变可为预后提供信息。
