Abstract
Children with Down syndrome (DS) often present with transient myeloproliferative disorder (TMD) and have an increased incidence of acute megakaryocytic leukemia (AMKL). The same type of GATA1 mutation exists in these two diseases. Appearance of trisomy 21 (T21), GATA1 mutation and extra gene event in hematologic malignancies, known as three times hits theory constitute to the pathogenesis of DS related leukemia. The new notion of silent and GATA1 gene mutation monitoring can give further risk classification and better treatment to children with DS, which would enhance the whole cure rate. As a multi-step model of leukemogenesis development in vivo, the process from DS, TMD to AMKL will give us greater knowledge about how the normal hematopoietic stem/ progenitor cells transformed into leukemia cells and how the interaction between specific signaling pathway and oncogenes were. This article reviews literatures on the mechanism and related process involved in Down syndrome-related myeloid proliferation (DS-MP) will offer a theoretical basis for the further study. Key words: Down syndrome; Leukemia; Myeloproliferative disorder; GATA1 transcription factor
Published Version
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