<i>t</i>（11;14）易位的多发性骨髓瘤的研究新进展

摘要: 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。
- 多发性骨髓瘤 /
- 11号和14号染色体易位 /
- B细胞淋巴瘤/白血病-2
Abstract: 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.
- multiple myeloma (MM) /
- translocation of chromosomes 11 and 14 /
- B-cell lymphoma/leukemia-2 (Bcl-2)

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