SF3B1突变型骨髓增生异常综合征亚型发病机制及诊断预后  

A Review of SF3B1 Mutant Myelodysplastic SyndromeSubtype Mechanism,Diagnosis and Prognosis

作　　者：秦晓燕 贺岩 刘玉兰 孙艳艳 QIN Xiaoyan;HE Yan;LIU Yulan;SUN Yanyan(Shijingshan Teaching Hospital of Capital Medical University,Beijing Shijingshan Hospital,Beijing 100040,China)

机构地区：[1]首都医科大学石景山教学医院北京市石景山医院,北京100040

出　　处：《标记免疫分析与临床》2022年第3期518-521,共4页Labeled Immunoassays and Clinical Medicine

基　　金：石景山区医学重点扶持专科建设;北京市石景山医院2021年院级科研项目(编号:sjsky-202108)。

摘　　要：骨髓增生异常综合征(myelodysplastic syndrome,MDS)是一种以无效、病态造血以及极易向急性髓系白血病(acute myeloid leukemia,AML)转化为特征的克隆性、异质性造血干细胞疾病。环形铁粒幼细胞(ring sideroblasts,RS)是指伴有线粒体铁沉积的有核红细胞,在骨髓涂片铁染色中显示铁颗粒数5个以上,并绕核排列1/3以上。RS是MDS病态造血的一种重要表现。剪接因子3B第1亚单位(splicing factor 3B subunit1,SF3B1)是与骨髓增生异常综合征伴环形铁粒幼细胞增多(myelodysplastic syndrome with ringed sideroblasts,MDS-RS)密切相关的基因,通过研究SF3B1基因突变与RS这一骨髓细胞形态学特征的相关性,对于明确MDS-RS的发病机制,寻找治疗靶点以及对伴RS增高的血液系统疾病的鉴别诊断具有重要意义。Myelodysplastic syndrome(MDS)is a clonal and heterogeneous hematopoietic stem cell disease characterized by ineffective and morbid hematopoiesis and easy-transformation to acute myeloid leukemia(AML).Ring sideroblasts(RS)are nucleated red blood cells with mitochondrial iron deposition.In the iron staining of bone marrow smears,there are more than 5 iron particles and more than 1/3 of them are arranged close to the nucleus.RS is an important manifestation of morbid hematopoiesis in MDS.Splicing factor 3B subunit 1(SF3B1)is a gene closely related to myelodysplastic syndrome with ringed sideblasts(MDS-RS).For studies of the correlation between SF3B1 gene mutations and RS,the morphological characteristics of bone marrow cells,it is important to clarify the pathogenesis of MDS-RS,and it is of great significance for identifying therapeutic targets and differential diagnosis of hematological diseases with increased RS.

关 键 词：环形铁粒幼细胞 骨髓增生异常综合征 SF3B1突变 

分 类 号：R733.3[医药卫生—肿瘤]