伴del（5q）的骨髓增生异常综合征的分子生物学研究进展

Research progress in molecular biology of myelodysplastic syndrome with del（5q）

摘要:

骨髓增生异常综合征（myelodysplastic syndromes，MDS）是一组起源于多能造血干/祖细胞的异质性恶性血液病，其发病机制尚不清楚。5号染色体长臂缺失是其最常见的分子生物学改变之一，与MDS的发病密切相关。RPS14、SPARC单倍剂量不足、microRNA、P53基因突变等分子生物学改变均在del（5q）患者中发现，其中RPS14已证实在5q-综合征中发挥抑癌基因的作用。本文拟对近年来发现的伴del（5q）的MDS患者的分子生物学改变做一综述。

Abstract:

Myelodysplastic syndromes（MDS） is originated from pluripotent hematopoietic stem/ progenitor cell with heterogeneity ma－lignancies and the pathogenesis is still obscure. Interstitial deletion of chromosome 5 is the most common cytogenetic abnormality in MDS and it is related with the pathogenesis of MDS. Furthermore，haploinsufficiency in RPS14，SPARC and the absence of mutations in miRNA，P53 were found in del（5q）MDS patients and RPS14 was proved to play the anti-oncogene role in the 5q-syndrome. This article summarized the newly released investigation of molecular pathogenesis associated with the development of MDS with del（5q）.