SF3B1突变型骨髓增生异常综合征亚型发病机制及诊断  

Pathogenesis and diagnosis of myelodysplastic syndrome subtype of SF3B1 mutation type

作　　者：周炯涛 何广胜[1] ZHOU Jiong-tao;HE Guang-sheng(Department of Hematology,the First Affiliated Hospital of Nanjing Medical University,Jiangsu Province Hospital Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院江苏省人民医院血液科,江苏南京210029

出　　处：《中国实用内科杂志》2021年第1期27-29,共3页Chinese Journal of Practical Internal Medicine

基　　金：江苏省医学重点项目(BL2014086);江苏省普通高校优势学科(JX10231801);国家中医药管理局行业专项(201407001-4)。

摘　　要：SF3B1基因突变形成了新骨髓增生异常综合征(MDS)亚型。MDS国际预后工作组(international working group for the prognosis of myelodysplastic syndromes,IWG-PM)建议诊断标准:(1)血细胞减少;(2)SF3B1基因体细胞突变;(3)孤立性红系或多系病态造血(诊断不需要RS);(4)骨髓原始细胞<5%和外周血原始细胞<1%;(5)不符合WHO标准的孤立性del(5q)、MDS及骨髓增殖性肿瘤伴环状铁粒幼细胞伴血小板增多(MPN-RS-T)或其他MDS及MPN标准、原发性骨髓纤维化或其他MPN标准;(6)排除以下染色体异常:单体7;inv(3)或3q26异常(导致EVI1基因异常融合或过度表达),及复杂染色体核型(≥3个以上异常);(7)或共表达RUNX1或(和)EZH2基因突变。SF3B1突变型MDS预后较好,可通过luspatercept治疗脱离输血。SF3 B1 mutation identifies a new MDS subtype by genetic abnormality.The International Working Group for the Prognosis of Myelodysplastic Syndromes(IWG-PM)proposed the diagnostic criteria:(1)cytopenia as defined by standard hematologic values,(2)somatic SF3 B1 mutation,(3)morphologicdysplasia(with or without RS),and(4)bone marrow blasts <5% and peripheral blood blasts <1%,(5)WHO criteria for MDS with isolated del(5 q),MDS/MPN-RS-T or otherMDS/MPNs,and primary myelofibrosis or other MPNs are not met,(6)Normal karyotype or any cytogenetic abnormality other than del(5 q);monosomy 7;inv(3)or abnormal 3 q26,complex(≥3),(7)Any additional somatically mutated gene other than RUNX1 and/or EZH2. SF3 B1-mutant MDS has a relatively good prognosis and achieve transfusion undependent by luspatercept.

关 键 词：SF3B1突变 骨髓增生异常综合征 分类 预后 

分 类 号：R551.3[医药卫生—血液循环系统疾病]