Nonrandom extra copies of 1q and 11q in the karyotypes of three new cases of acute myeloid leukemia associated with Down syndrome

[摘要] Children with Down syndrome (DS, OMIM #190685) have an increased risk for a hematopoietic malignancy. Down syndrome-associated AML (DS-AML) is diagnosed in children under 4 years, being often characterized as acute megakaryoblastic leukemia (AMegL), with somatic mutations in the GATA1 gene, and a relatively favorable course of the disease. This disease is commonly preceded by a stage of bone marrow failure with morphological myelodysplasia of erythroid and megakaryocytic cells. Additional chromosomal abnormalities in the DS-MDS/AML karyotypes are described in 20-35% of patients. To date the published data on the cytogenetic changes that occur during the evolution of DS-AML with an assessment of their prognostic impact are still insufficient.

[学科分类] 肿瘤学

[关键词] Down syndrome;trisomy 21;acute myeloid leukemia;myelodysplastic syndrome;pathomorphology;acquired chromosomal abnormalities;clonal evolution;cytogenetics;multicolor fluorescence;in situ hybridization;GATA1;prognosis.