摘要原发性血小板增多症(ET)是一种以巨核细胞系增生为主的多能造血干细胞克隆性疾病.儿童与成人疾病特征类似,主要表现为血小板持续性增多,伴有出血、血栓形成,肝脾轻至中度肿大.研究表明ET的发病与多种基因、微小RNA、免疫分子的表达异常或失调及一些染色体异常等相关.该文综述了ET发病机制在分子生物学、免疫学、细胞遗传学等领域的研究进展.

abstractsEssential thrombocythemia (ET) which is a clonal disease of hematopoietic stem cell mainly reflects hyperplasia of megakaryocyte. Childhood ET is characterized by persistance of thrombocytosis, mild to moderate hepatomegalia and splenomegalia, thrombogenesis and hemorrhage complications. The pathogenesis of ET is obviously associated with the abnormal or disturbance expression of multiple genes, micro RNAs,immunological molecules and some chromosome aberration. This review will focus on recent developments in the pathogenesis of ET in molecular biology, immunology and cytogenetics.