Del(20q)在骨髓增生异常肿瘤中的研究现状  

Research status of del(20q)in myelodysplastic syndromes

作　　者：黄欣卉 吴凌云[1] Huang Xinhui;Wu Lingyun(Department of Hematology,Sixth People′s Hospital Affiliated to Shanghai Jiao Tong University,Shanghai 200233,China)

机构地区：[1]上海交通大学附属第六人民医院血液科,上海200233

出　　处：《国际输血及血液学杂志》2024年第3期201-207,共7页International Journal of Blood Transfusion and Hematology

基　　金：上海市科技计划项目(22ZR1447700)。

摘　　要：细胞遗传学及分子生物学异常在骨髓增生异常肿瘤(MDS)发病中发挥重要作用,但是目前相关机制尚未阐明。50%~60%MDS患者存在染色体异常,包括del(5q)、del(7q)、8-三体及del(20q)等。del(20q)可在MDS中反复发生,造成1种或多种基因的改变,进而导致造血干/祖细胞的调控异常。利用多种基因分析技术对染色体20q上靶基因进行鉴定和功能研究,将有助于阐明正常造血分化的调控,以及MDS的发生机制。此外,伴del(20q)MDS患者中可观察到附加染色体异常,以及伴随基因突变或缺失,上述改变与del(20q)共同存在可导致其疾病表型异质性较高。笔者拟从流行病学特点、临床特征、发病机制、治疗及预后等方面,对del(20q)在MDS中的研究现状进行阐述,旨在为该病患者的临床诊疗提供思路。Cytogenetic and molecular biological abnormalities play an important role in the pathogenesis of myelodysplastic neoplasms(MDS).However,the mechanisms have not been fully elucidated.Chromosomal abnormalities are detected in 50%-60%of patients with MDS,including del(5q),del(7q),trisomy of chromosome 8,as well as del(20q).del(20q)can recurrently occur in MDS,causing alterations in one or more kinds genes,which result in abnormal regulation of hematopoietic stem/progenitor cells.Identification and study of target genes on chromosome 20q by multiple genetic analysis techniques will help to elucidate the regulation of normal hematopoiesis as well as the development of MDS.In addition,additional chromosomal variants,as well as concomitant mutations or deletions,can be observed in MDS patients with del(20q),and the co-occurrence of these alterations with del(20q)can lead to a high degree of heterogeneity in the disease phenotype.This article will elaborate on the research status of MDS patients with del(20q)in terms of epidemiological features,clinical characteristics,pathogenesis,treatment and prognosis,aiming to provide ideas for the clinical diagnosis and treatment of patients with this disease.

关 键 词：骨髓增生异常综合征 染色体缺失 染色体 人 20对 突变 预后 Del(20q) 

分 类 号：R733.3[医药卫生—肿瘤]