Li Ye, Deng Jingjing, Chen Wenming
Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation for Hematological Diseases, Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing, 100044, China.
Department of Hematology, Beijing Chaoyang Hospital, Myeloma Research Center of Beijing, Capital Medical University, Gongtinanlu No 8, Chaoyang District, Beijing, 100020, China.
Ann Hematol. 2025 Jan;104(1):503-513. doi: 10.1007/s00277-024-06164-2. Epub 2025 Jan 4.
1q21gain/amp is the most common in patients with multiple myeloma. However, there is limited research on the prognostic heterogeneity of 1q21+, and the prognostic of the 1q21 copy remains controversial. In this study, we primarily conducted a retrospective analysis of the prognostic significance of 1q21 gain/amp in 375 newly diagnosed multiple myeloma patients. 1q21 + was detected in 164 (43.7%) patients, including 103 (27.5%) with 3 copies and 61 (16.3%) with ≥ 4 copies. Patients with 1q21 + were more likely to be accompanied by anemia, hypercalcemia, t(4;14), and t(14;16). Compared with 1q21-, the progression-free survival (PFS) and overall survival (OS) of 1q21 + are shorter(p <0.0001; p = 0.036). The PFS of 1q21 amp was shorter than 1q21 gain (p = 0.0072). When accompanied by other high-risk abnormalities, 1q21 + was associated with earlier disease progression (all p<0.05). There were no significant differences in survival outcomes among patients with 1q21 gain alone, 1q21 amp alone, and FISH-. Autologous stem cell transplantation can prolong the survival of 1q21 + patients (p = 0.00062). A predictive scoring system based on 1q21 gain, 1q21 amp, del(17p), t(14;16), ISS II/III, and high LDH categorizes patients into three groups: low-risk (44.8%), intermediate-risk (38.9%), and high-risk (16.3%) (p < 0.0001; p < 0.0001). 1q21 + showed a relatively poor prognosis when coexisted with other high-risk cytogenetic abnormalities, especially 1q21 amp. The risk scoring system based on 1q21 copies is a potential risk stratification tool for multiple myeloma.
1q21获得/扩增在多发性骨髓瘤患者中最为常见。然而，关于1q21+预后异质性的研究有限，1q21拷贝数的预后仍存在争议。在本研究中，我们主要对375例新诊断的多发性骨髓瘤患者中1q21获得/扩增的预后意义进行了回顾性分析。164例（43.7%）患者检测到1q21+，其中103例（27.5%）为3拷贝，61例（16.3%）为≥4拷贝。1q21+患者更易伴有贫血、高钙血症、t(4;14)和t(14;16)。与1q21-相比，1q21+的无进展生存期（PFS）和总生存期（OS）更短（p<0.0001；p=0.036）。1q21扩增的PFS短于1q21获得（p=0.0072）。当伴有其他高危异常时，1q21+与疾病早期进展相关（所有p<0.05）。单纯1q21获得、单纯1q21扩增和荧光原位杂交（FISH）-阴性的患者生存结局无显著差异。自体干细胞移植可延长1q21+患者的生存期（p=0.00062）。基于1q21获得、1q21扩增、del(17p)、t(14;16)、国际分期系统（ISS）II/III期和高乳酸脱氢酶（LDH）的预测评分系统将患者分为三组：低危（44.8%）、中危（38.9%）和高危（16.3%）（p<0.0001；p<0.0001）。当与其他高危细胞遗传学异常共存时，尤其是1q21扩增，1q21+显示出相对较差的预后。基于1q21拷贝数的风险评分系统是多发性骨髓瘤潜在的风险分层工具。
