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Trisomy of chromosome 21 in leukemogenesis

2007; Elsevier BV; Volume: 39; Issue: 2 Linguagem: Inglês

10.1016/j.bcmd.2007.04.004

1096-0961

S. Izraeli, Liat Rainis, Libi Hertzberg, Gil Smooha, Yehudit Birger,

Immunodeficiency and Autoimmune Disorders

Extra copies of chromosome 21 are often found in sporadic leukemias. Constitutional trisomy 21 of Down syndrome (DS) is associated with markedly increased risk for childhood leukemia. Thus the oncogenic role of trisomy 21 in the more common sporadic childhood leukemias may be revealed through the investigations of the relatively rare leukemias of DS. Recent studies of the megakaryoblastic leukemias of Down syndrome have uncovered a developmental leukemogenic mechanism characterized by a unique pre-natal collaboration between overexpressed genes from chromosome 21 and an acquired mutation in the transcription factor GATA1. The base of the markedly enhanced risk for acute lymphoblastic leukemia conferred by trisomy 21 is still unclear. Studies of the leukemias of DS are likely to contribute to the general understanding of the oncogenic mechanisms of chromosomal aneuploidies, the most common abnormalities in cancer.