Department of Hematology, Peking Union Medical College Hospital, Beijing, China.
Peking Union Medical College, Chinese Academy and Medical Sciences, Beijing, China.
Eur J Haematol. 2024 Dec;113(6):824-832. doi: 10.1111/ejh.14296. Epub 2024 Aug 27.
To study the cytogenetic characteristics of extramedullary disease (EMD) in patients with multiple myeloma (MM) and their impact on prognosis.
Patients with newly diagnosed MM (NDMM) at Peking Union Medical College Hospital (Beijing, China) between June 2007 and December 2019 were recruited for this study. Demographic information, clinical data, fluorescence in situ hybridization (FISH) results of marrow and tissue samples, and survival outcome data were collected.
A total of 439 patients with NDMM were divided into those without EMD (non-EMD, n = 339), those with EMD with primary paraosseous plasmacytoma (pEMD-B, n = 48), those with primary EMD with soft-tissue involvement (pEMD-S, n = 33), and those with secondary EMD (sEMD, n = 19). The incidence of EMD was 18.5% (81/439) at diagnosis and 22.8% (100/439) throughout the disease course. Comparison of FISH results showed a higher proportion of RB1 deletion (n = 20; 60.0% vs. 20.0%, p = .013) and MYC translocation (n = 12; 44.4% vs. 12.5%, p = .041) in the extramedullary tissues than in the paired bone marrow samples. At diagnosis, the percentage of MYC translocations in the sEMD group was notably higher than that in the non-EMD group (55.6% vs. 15.5%, p = .012). The median overall survival (OS) of patients with pEMD-S (32 months) and sEMD (17 months) was significantly shorter (both p = .001) than that of non-EMD patients (60 months).
Soft-tissue EMD can be considered a high-risk condition, even in the era of novel agents. MYC translocation can serve as a valuable marker that correlates with extramedullary spread and relapse in patients with MM and should be considered for inclusion in routine FISH panels in clinical practice.
研究多发性骨髓瘤（MM）患者髓外疾病（EMD）的细胞遗传学特征及其对预后的影响。
本研究纳入 2007 年 6 月至 2019 年 12 月期间在北京协和医院新诊断的 MM 患者。收集患者的人口统计学信息、临床数据、骨髓和组织样本荧光原位杂交（FISH）结果以及生存结局数据。
共纳入 439 例新诊断 MM 患者，分为无 EMD 组（非 EMD，n=339）、原发性骨旁浆细胞瘤伴 EMD 组（pEMD-B，n=48）、原发性软组织受累伴 EMD 组（pEMD-S，n=33）和继发性 EMD 组（sEMD，n=19）。诊断时 EMD 的发生率为 18.5%（81/439），整个病程中为 22.8%（100/439）。FISH 结果比较显示，髓外组织中 RB1 缺失（n=20；60.0%比 20.0%，p=.013）和 MYC 易位（n=12；44.4%比 12.5%，p=.041）的比例高于配对骨髓样本。诊断时，sEMD 组 MYC 易位的比例明显高于非 EMD 组（55.6%比 15.5%，p=.012）。pEMD-S（32 个月）和 sEMD（17 个月）患者的中位总生存期（OS）明显短于非 EMD 患者（均 p=.001）。
即使在新型药物时代，软组织 EMD 也可被视为一种高危情况。MYC 易位可作为一个有价值的标志物，与 MM 患者的髓外扩散和复发相关，应考虑将其纳入临床实践中的常规 FISH 检测。
