Kalal Akanksha A, Arumugam Meenakshi, Shetty Vijith V, Shetty K Padma, Krishna Rajesh, Shetty Reshma A, Kulkarni Nagaraj V, Shetty D Prashanth
KSHEMA Center for Genetic Services, KS Hegde Medical Academy, NITTE (Deemed to be University), Mangaluru, Karnataka, India.
Dr Lal PathLab, Bengaluru, India.
J Taibah Univ Med Sci. 2023 Mar 26;18(5):1138-1147. doi: 10.1016/j.jtumed.2023.03.009. eCollection 2023 Oct.
Multiple myeloma (MM) is a hematological disorder involving the uncontrolled proliferation of clonal plasma cells and its accumulation in the bone marrow. This study analyzed the frequency, cytogenetic heterogeneity, and clinical characteristics of patients with MM.
Bone marrow aspirates were obtained from 72 patients with MM and evaluated by conventional cytogenetics (CCs) and interphase fluorescence hybridization (iFISH) techniques for a panel of probes, including immunoglobulin heavy chain (IgH)/CCND1, IgH/fibroblast growth factor receptor 3 (FGFR3), IgH/MAFB, 13q deletion, and deletion 17p.
CCs revealed abnormal karyotypes in 39% of the patients examined. The incidence of hypodiploidy was 28% (20/72) while that of hyperdiploidy was 10% (7/72). iFISH analysis revealed t(11;14) in 6% (4/72) and t(4;14) in 11% (8/72) of patients. Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies. Kaplan-Meier analysis revealed a significant difference between positive and negative groups for t(4;14), trisomy 14, and monosomy 13; this was associated with a shorter survival time. Cox proportional analysis identified t(4;14) (P = 0.032), trisomy 14 (P = 0.004), and monosomy 13 (P = 0.009), as significant factors with hazard ratio of 0.187 [confidence interval (CI): 0.041-0.862], 0.109 [CI: 0.024-0.500] and 0.134 [CI: 0.030-0.600].
In addition to cytogenetic abnormalities, iFISH analysis revealed significant heterogeneity among patients with MM. Cytogenetic heterogeneity in patients with MM should be considered as a major prognostic marker contributing to the variability of the disease. Our findings suggest that these abnormalities are independent prognostic factors.
多发性骨髓瘤（MM）是一种血液系统疾病，涉及克隆性浆细胞的不受控制增殖及其在骨髓中的积聚。本研究分析了MM患者的频率、细胞遗传学异质性和临床特征。
从72例MM患者中获取骨髓穿刺液，采用传统细胞遗传学（CCs）和间期荧光原位杂交（iFISH）技术对一组探针进行评估，包括免疫球蛋白重链（IgH）/CCND1、IgH/成纤维细胞生长因子受体3（FGFR3）、IgH/MAFB、13q缺失和17p缺失。
CCs显示39%的受检患者核型异常。亚二倍体的发生率为28%（20/72），而超二倍体的发生率为10%（7/72）。iFISH分析显示6%（4/72）的患者存在t(11;14)，11%（8/72）的患者存在t(4;14)。超二倍体和亚二倍体患者与几种单体和三体相关。Kaplan-Meier分析显示t(4;14)、三体14和单体13的阳性和阴性组之间存在显著差异；这与较短的生存时间相关。Cox比例分析确定t(4;14)（P = 0.032）、三体14（P = 0.004）和单体13（P = 0.009）为显著因素，风险比分别为0.187[置信区间（CI）：0.041 - 0.862]、0.109[CI：0.024 - 0.500]和0.134[CI：0.030 - 0.600]。
除细胞遗传学异常外，iFISH分析显示MM患者之间存在显著异质性。MM患者的细胞遗传学异质性应被视为导致疾病变异性的主要预后标志物。我们的研究结果表明这些异常是独立的预后因素。
