MYELOID NEOPLASIA Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia
نویسندگان
چکیده
1Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan; 2Department of Hematology/Oncology, Gunma Children’s Medical Center, Gunma, Japan; 3Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan; 4Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan; 5Department of Pediatrics, Kagoshima City Hospital, Kagoshima, Japan; 6Department of Pediatrics, Iwate Medical University, Morioka, Japan; 7Department of Pediatrics, St Luke’s International Hospital, Tokyo, Japan; 8Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan; 9Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; 10Department of Pediatrics, Aomori City Hospital, Aomori, Japan; 11Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan; 12Department of Pediatrics, Shiga University of Medical Science, Ohtsu, Japan; and 13Department of Hematology and Oncology, Hyogo Children Hospital, Kobe, Japan
منابع مشابه
Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia.
Twenty percent to 30% of transient abnormal myelopoiesis (TAM) observed in newborns with Down syndrome (DS) develop myeloid leukemia of DS (ML-DS). Most cases of TAM carry somatic GATA1 mutations resulting in the exclusive expression of a truncated protein (GATA1s). However, there are no reports on the expression levels of GATA1s in TAM blasts, and the risk factors for the progression to ML-DS ...
متن کاملAnalysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia.
Children with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutation in the hematopoietic transcription factor GATA1 is present in almost all cases. Here, we show ...
متن کاملAnalysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome.
It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of DS patients and the appl...
متن کاملPerturbation of fetal hematopoiesis in a mouse model of Down syndrome's transient myeloproliferative disorder.
Children with Down syndrome develop a unique congenital clonal megakaryocytic proliferation disorder (transient myeloproliferative disorder [TMD]). It is caused by an expansion of fetal megakaryocyte-erythroid progenitors (MEPs) triggered by trisomy of chromosome 21 and is further enhanced by the somatic acquisition of a mutation in GATA1. These mutations result in the expression of a short-iso...
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Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key ha...
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