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

Cellular Therapy and Transplantation

article

Tatiana L. Gindina¹  Vadim V. Baykov¹  Polina V. Kozhokar¹  Sabina V. Ryabenko¹  Artem A. Gusak¹  Sergey S. Riumin¹  Tatiana Yu. Gracheva¹  Ildar M. Barkhatov¹  Elena V. Babenko¹  Olesya V. Paina¹  Elena V. Semenova¹  Ludmila S. Zubarovskaya¹  Nikolay N. Mamaev¹  Alexander D. Kulagin¹ 

[1] RM Gorbacheva Research Institute of Pediatric Oncology, Hematology and Transplantology, Pavlov University

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.;   

DOI  :  10.18620/ctt-1866-8836-2023-12-1-32-40

学科分类：肿瘤学

来源: Universitaetsklinikum Hamburg - Eppendorf / University Medical Center Hamburg - Eppendorf

【 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.

【 授权许可】

CC BY