【摘要】 目的研究t(1;3)(p36;q21)骨髓增生异常综合征(MDS)患者的临床特征和受累基因的表达。方法报告4例t(1;3)(p36;q21)MDS患者。用半定量RT-PCR方法检测正常胎儿组织、2 名健康正常人和3例t(1;3)(p36;q21)MDS患者骨髓细胞MEL1(MDS1／EVI1-like gene)基因两种转录形式(全长的MEL1和短型MEL1s)的表达水平。结果t(1;3)(p36;q21)MDS患者临床表现主要以乏力等贫血症状为主,为大细胞性贫血,白细胞计数正常,血小板计数正常或增高,骨髓细胞形态有粒系、红系和巨核细胞系三系发育异常改变,以巨核细胞发育异常表现为主,患者预后差。正常人骨髓细胞和正常胎儿组织主要表达全长的MEL1,而t(1;3)(p36;q21)MDS患者骨髓以MEL1s表达为主,或仅表达MEL1s。结论t(1;3)(p36;q21)MDS可能为一个独立临床病理遗传学病种,MEL1s的过表达在其发病机制中起重要作用。更多还原

【Abstract】 To study the clinical features of myelodysplastic syndromes (MDS) patients with t ( 1 ; 3 ) ( p36; q21 ) and the expression of the involued genes. Methods 4 cases of MDS with t ( 1 ; 3 ) (p36;q21) were reported. The expression level of two transcription forms (PR-containing form MEL1 and PR-lacking form MEL1 s) of MEL1 gene in normal fetus tissues, 2 healthy donor bone marrows and bone marrows from 3 MDS patients with t( 1 ;3 ) ( p36 ;q21) were detected by semiquantitative reverse transcription pol-ymerase chain reaction (RT-PCR). Results MDS patients with t( 1 ;3) (p36;q21) mainly presented with debility. Hemogram was macrocytic anemia, normal or elevated white blood cell and platelet counts. The bone marrow showed trilinege dysplasia especially dysmegakaryocytopoiesis. The patients had poor prognosis. MEL1 form was mainly expressed in the normal fetus tissues and healthy bone marrows, while the bone marrow cells from MDS patients with t( 1 ;3) ( p36;q21) mainly or only expressed MELls. Conclusions MDS patients with t( 1 ;3) ( p36;q21) may be a new unique entity. Overexpression of MELls induced by t ( 1 ;3) (p36;q21) might play an important role in the pathogenesis of this entity.更多还原