| 杨毅 邓玲 聂代蓉 陈永平 牟庆云 钟晖 向靓.多发性骨髓瘤遗传学的研究进展[J].,2016,16(26):5187-5190 |
| 多发性骨髓瘤遗传学的研究进展 |
| Progress of Genetics on Multiple Myeloma |
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| DOI： |
| 中文关键词: 多发性骨髓瘤 遗传学 |
| 英文关键词: Multiple myeloma Genetics |
| 基金项目: |
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| 中文摘要: |
| 多发性骨髓瘤起源于后生发中心的B细胞，是一种不可治愈的慢性进展性骨髓浆细胞恶性肿瘤，约占血液系统肿瘤的
10%。多发性骨髓瘤存在明显的遗传学改变，其早期的遗传学改变是免疫球蛋白重链基因位点的易位，而这些易位常常导致
11q13 区域的cyclin D1、4p16.3 区域的FGFR3/MMSET、16q23 区域的c-maf、6p21 区域的cyclin D3 等癌基因的失调，同时还存在
抑癌基因位点13q14 的丢失以及13 号染色单体的缺失，这些染色体异常与疾病的预后密切相关。并且N-RAS、K-RAS的突变，以
及c-Myc 改变等继发性的改变和癌基因的活化等也与疾病的进展密切关联。近年来，随着医学技术的不断进步，人们对该病的遗
传学改变认识进一步加深。本文对多发性骨髓瘤的遗传学改变研究进展进行综述，旨在为指导临床有效治疗多发性骨髓瘤，有效
评估预后提供参考。 |
| 英文摘要: |
| Multiple myeloma, which originates from the germinal of B cells, is a kind of chronic progressive bone marrow
plasma cell carcinoma which can not be cured, accounting for 10% in blood system tumor. Multiple myeloma has obvious genetic
changes and its early genetic change is translocation of immunoglobulin heavy chain gene loci. With the translocation, imbalance of
cancer gene is launched, such as cyclin D1 of 11 q13, FGFR3/MMSET of 4p 16.3, c-maf of 16q 23, cyclin D1 of 6p 21; meanwhile, there
is loss of 13q 14 in tumor suppressor gene and loss of 13 chromosome. The changes in chromosome abnormalities are closely related to
the prognosis of multiple myeloma. The secondary changes and activation of oncogenes such as mutations of N-RAS, K-RAS,and
changes of c-myc are correlated with the progress of the multiple myeloma. In recent years,with the continuous development of medical
technology,understanding on genetic change of multiple myeloma has been further deepen. In this paper, the progress of genetic changes
on multiple myeloma is reviewed, which is aimed at poviding a reference for guiding the clinical treatment and prognosis assessment. |
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