Objective: To investigate the influence of the number of high-risk cytogenetic abnormalities (HRCA) on the clinical characteristics and prognosis of patients with newly diagnosed multiple myeloma (MM) . Methods: A total of 360 patients with newly diagnosed MM admitted to Jiangsu Province Hospital between November 2013 and September 2020 were included in this study. Cytoplasmic light chain immunofluorescence with fluorescence in situ hybridization (cIg-FISH) was used to detect HRCA. Cytogenetic abnormalities were combined with clinical characteristics and outcomes for further analysis. Results: Among the 360 patients, 120 patients (33.3%) presented with no HRCAs, and 175 (48.6%) , 61 (16.9%) , and four (1.1%) patients had one, two, and three HRCA (s) , respectively. Patients were divided into three groups, including the no-HRCA group, one-HRCA group, and ≥two-HRCA group, according to the number of HRCAs. There were significant differences in the R-ISS stage, hemoglobin level, albumin level, and the proportion of bone marrow plasma cells among the three groups (P<0.05) . The COX proportional-hazards model identified extramedullary disease (P=0.018) , HRCA ≥ 2 (P=0.001) , and absence of autologous hematopoietic stem cell transplantation (P<0.001) as independent risk factors for progression free survival (PFS) and identified lactate dehydrogenase (LDH) level ≥ 220 U/L (P<0.001) , HRCA ≥2 (P=0.001) , and absence of autologous hematopoietic stem cell transplantation (P=0.005) as independent risk factors for overall survival (OS) . The median PFS was 28 months, 22 months, and 14 months (P=0.005) for the three cohorts, and their OS was not reached,60 months, and 30 months (P=0.001) , respectively. Conclusions: HRCA ≥ 2 is an independent risk factor for decreased survival in patients with newly diagnosed MM. More HRCAs result in heavier tumor burden, as well as a higher risk of disease progression and death.
目的： 探讨初诊多发性骨髓瘤（MM）患者的高危细胞遗传学异常（HRCA）数目对临床特征及预后的影响。 方法： 选取2013年11月至2020年9月江苏省人民医院收治的360例初诊MM患者，应用胞质轻链免疫荧光结合荧光原位免疫杂交（cIg-FISH）技术检测患者的HRCA，并结合患者的临床资料进行分析。 结果： 360例患者中，无HRCA、1种HRCA、2种HRCA、3种HRCA的患者分别为120例（33.3%）、175例（48.6%）、61例（16.9%）、4例（1.1%）。依据HRCA数目将患者分为无HRCA组、1种HRCA组、≥2种HRCA组，三组患者的R-ISS分期、血红蛋白、白蛋白、骨髓浆细胞比例、诱导治疗后疗效差异均有统计学意义（P值均<0.05）。Cox比例风险回归分析显示，髓外病变（P=0.018）、HRCA≥2种（P=0.001）、未行自体造血干细胞移植（P<0.001）是影响患者无进展生存的独立危险因素，乳酸脱氢酶≥220 U/L（P<0.001）、HRCA≥2种（P=0.001）、未行自体造血干细胞移植（P=0.005）是影响患者总生存的独立危险因素。生存分析显示，无HRCA组、1种HRCA组、≥2种HRCA组患者的中位无进展生存期分别为28、22、14个月（P=0.005），中位总生存期分别为未达到、60个月、30个月（P=0.001）。 结论： HRCA数目≥2是影响初诊MM患者生存的独立危险因素，HRCA数目越多，肿瘤负荷越重，进展及死亡风险越高。.
Keywords: Cytogenetic abnormalities; Fluorescence in situ hybridization; Multiple myeloma; Prognosis.