Gao Shuang, Dong Fei, Yang Ping, Chen Yingtong, Wang Yanfang, Wang Jing, Shi Yanyan, Jing Hongmei
Department of Hematology, Lymphoma Center, Third Hospital, Peking University, Beijing, China.
Research Center of Clinical Epidemiology, Third Hospital, Peking University, Beijing, China.
Ann Hematol. 2024 Jun;103(6):1979-1987. doi: 10.1007/s00277-023-05588-6. Epub 2024 Jan 11.
1q21+ is a common cytogenetic abnormality in multiple myeloma (MM) and is considered an independent predictor of poor prognosis; however, its impact on extramedullary disease (EMD) remains unknown. Our study reviewed the clinical relevance and prognostic value of 1q21+ status in 92 patients with NDMM and EMD. 1q21+ was detected in 23.9% (22/92) of patients. Patients with 1q21+ presented with advanced International Staging System stages (P = 0.006), lower level of hemoglobin (P = 0.004), higher percentage of plasma cells in the bone marrow (P < 0.001), higher level of serum β2-microglobulin (7.24 g/L vs. 3.85 g/L, P = 0.003), and higher levels of lactic dehydrogenase (LDH) (206.5 U/L vs. 177 U/L, P = 0.019). The prevalence of soft tissue-related EMD (EMD-S) (54.5% vs. 18.6%, P < 0.001), renal dysfunction (50.5% vs. 17.7%, P = 0.002), and hypercalcemia (27.3% vs. 7.1%, P = 0.011) was also higher. 1q21+ was strongly associated with other high-risk cytogenetic abnormalities, including IgH/FGFR3 (22.7% vs. 4.3%, P = 0.007) and IgH/MAF translocations (22.7% vs. 1.4%, P < 0.001). 1q21+ patients had significantly shorter overall survival (OS) and progression-free survival (PFS) (OS: 24 months vs. 47 months, P = 0.002; PFS: 14 months vs. 38 months, P < 0.001); the poor survival outcomes could not be reversed by autologous hematopoietic stem cell transplantation. Multivariate analysis suggested that 1q21+ , EMD-S, elevated lactate dehydrogenase (LDH) levels, and P53 deletion were independent risk factors for poor prognosis in patients with EMD. In patients with 1q21+ EMD, hypercalcemia, elevated LDH levels, and P53 deletion were independent adverse risk prognostic factors.
1q21+是多发性骨髓瘤(MM)中常见的细胞遗传学异常,被认为是预后不良的独立预测指标;然而,其对髓外疾病(EMD)的影响尚不清楚。我们的研究回顾了92例新诊断的MM伴EMD患者中1q21+状态的临床相关性和预后价值。23.9%(22/92)的患者检测到1q21+。1q21+的患者表现为国际分期系统晚期(P = 0.006)、血红蛋白水平较低(P = 0.004)、骨髓中浆细胞百分比更高(P < 0.001)、血清β2-微球蛋白水平更高(7.24 g/L对3.85 g/L,P = 0.003)以及乳酸脱氢酶(LDH)水平更高(206.5 U/L对177 U/L,P = 0.019)。软组织相关EMD(EMD-S)的患病率(54.5%对18.6%,P < 0.001)、肾功能不全(50.5%对17.7%,P = 0.002)和高钙血症(27.3%对7.1%,P = 0.011)也更高。1q21+与其他高危细胞遗传学异常密切相关,包括IgH/FGFR3(22.7%对4.3%,P = 0.007)和IgH/MAF易位(22.7%对1.4%,P < 0.001)。1q21+的患者总生存期(OS)和无进展生存期(PFS)显著缩短(OS:24个月对47个月,P = 0.002;PFS:14个月对38个月,P < 0.001);自体造血干细胞移植无法逆转不良生存结局。多因素分析表明,1q21+、EMD-S、乳酸脱氢酶(LDH)水平升高和P53缺失是EMD患者预后不良的独立危险因素。在1q21+EMD患者中,高钙血症、LDH水平升高和P53缺失是独立的不良风险预后因素。