t(11;14)易位的多发性骨髓瘤的研究新进展

Recent advances in multiple myeloma with t(11;14)translocation

多发性骨髓瘤(multiple myeloma,MM)是一种遗传复杂、高度异质性的恶性肿瘤,易位、拷贝数改变和突变是其主要的细胞遗传学异常。11号和14号染色体易位t(11;14)是其最常见的易位,携带该种易位的群体在预后中表现出明显的异质性,t(11;14)亚群有两种不同的预后。此外,t(11;14)亚群与B细胞淋巴瘤/白血病-2(B-cell lymphoma/leukemia-2,Bcl-2)抗凋亡蛋白有较强的相关性,这为研究Bcl-2抑制剂维奈克拉(venetoclax)单药及联合治疗t(11;14)复发难治性骨髓瘤患者的治疗效果奠定基础。本文通过总结t(11;14)易位的MM的病理机制、治疗及预后的研究进展,旨在为该亚群患者延缓疾病的进展、提高生存率和改善治疗提供依据。

Multiple myeloma(MM)is highly heterogeneous malignant tumor with a complex genetic background.Translocation,changes in copy number,and mutations are the main cytogenetic abnormalities of MM.The translocation of chromosomes 11 and 14 t(11;14)is the most common translocation change detected in patients with MM,which results in significant heterogeneity in their prognoses.Relevant evidence has shown that patients with multiple myelomas carrying t(11;14)have two prognosis subtypes.Furthermore,a strong correlation exists between t(11;14)and B-cell lymphoma/leukemia-2(Bcl-2)protein,a antiapoptotic protein in MM.Therefore,monotherapy or combined therapy with the Bcl-2 inhibitor venetoclax is promising for treating relapsed and refractory MM patients with t(11;14).By summarizing the research progress on pathological mechanisms,treatment and prognosis of t(11;14)-positive MM,this study aims to provide evidence for delaying disease progression,improving survival rates,and suggesting future treatments for the specific subgroup of patients.