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摘要: 多发性骨髓瘤(multiple myeloma，MM)是常见的造血系统恶性肿瘤，其发病率在我国血液肿瘤中位居第2位，特征为骨髓克隆浆细胞异常增殖。随着新药的应用，MM的治疗取得重大进展，但其仍是无法治愈性疾病。14号染色体上免疫球蛋白重链(IgH)的易位是MM重要的遗传学改变，这导致癌基因(如CCND1、MAF和MMSET)的激活。在所有易位中，t(4；14)(p16.3；q32.3)是最常见的细胞遗传异常之一，发病率高(15%)，并与较差的临床预后密切相关。t(4；14)易位MM患者的MMSET升高，其断点位置影响t(4；14)易位患者的预后，表明MMSET可能是该亚型的靶点。该综述描述了与t(4；14)易位MM相关的分子特征，评估了t(4；14)易位MM患者的预后情况，总结了临床治疗t(4；14)易位MM的药物疗效和安全性数据，并讨论了这一独特MM分型的个体化治疗方案，这些内容可以为t(4；14)易位MM患者寻找有效治疗方案提供线索。Abstract: Multiple myeloma(MM) is a common malignant tumor of the hematopoietic system, characterized by abnormal proliferation of bone marrow clonal plasma cells. The incidence of MM ranks second among hematological tumors in China. With the application of new drugs, the treatment of MM has made significant progress, but it is still an incurable disease. The translocation of immunoglobulin heavy chain(IgH) on chromosome 14 is an important genetic change in MM, which leads to the activation of oncogenes(such as CCND1, MAF and MMSET). Among all translocations, t(4; 14)(p16.3; q32.3) is one of the most common cytogenetic abnormalities, with a high incidence(15%) and is closely related to poor clinical prognosis. The level of MMSET in MM patients with t(4; 14) translocation was elevated, and the prognosis was related to the different breakpoint positions. This suggests that MMSET may be the target of this subtype. This review describes the molecular characteristics related to t(4; 14) translocation MM, evaluates the prognosis of t(4; 14) translocation MM patients, summarizes the drug efficacy and safety data of clinical treatment of t(4; 14) translocation MM, and discusses the individualized treatment scheme of this unique MM isoform. These contents can provide clues for finding an effective treatment for MM patients with t(4; 14) translocation.
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Key words:
- multiple myeloma /
- t(4;14) /
- cytogenetics /
- treatment
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