Zhang Mei-rong, Liu Xu-ping, Zhang Yue, Yang Lin, Zhou Xue-hui, Hao Yu-shu, Xiao Zhi-jian
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
Zhonghua Xue Ye Xue Za Zhi. 2006 Feb;27(2):99-102.
To study the clinical features of myelodysplastic syndromes (MDS) patients with t (1; 3) (p36; q21) and the expression of the involved genes.
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 MEL1s) 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 polymerase chain reaction (RT-PCR).
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 tri-lineage 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 MEL1s.
MDS patients with t (1; 3) (p36; q21) may be a new unique entity. Overexpression of MEL1s induced by t (1; 3) (p36; q21) might play an important role in the pathogenesis of this entity.
研究伴有t(1;3)(p36;q21)的骨髓增生异常综合征（MDS）患者的临床特征及相关基因的表达情况。
报道4例伴有t(1;3)(p36;q21)的MDS患者。采用半定量逆转录聚合酶链反应（RT-PCR）检测正常胎儿组织、2例健康供者骨髓以及3例伴有t(1;3)(p36;q21)的MDS患者骨髓中MEL1基因两种转录形式（含PR的MEL1形式和不含PR的MEL1s形式）的表达水平。
伴有t(1;3)(p36;q21)的MDS患者主要表现为虚弱。血常规显示大细胞性贫血，白细胞和血小板计数正常或升高。骨髓表现为三系发育异常，尤其是巨核细胞生成异常。患者预后较差。MEL1形式主要在正常胎儿组织和健康骨髓中表达，而伴有t(1;3)(p36;q21)的MDS患者骨髓细胞主要或仅表达MEL1s。
伴有t(1;3)(p36;q21)的MDS患者可能是一种新的独特实体。由t(1;3)(p36;q21)诱导的MEL1s过表达可能在该实体的发病机制中起重要作用。
