Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome
نویسندگان
چکیده
منابع مشابه
Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update
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...
متن کاملNaturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome.
Children with Down syndrome have an increased incidence of transient abnormal myelopoiesis (TAM) and acute megakaryoblastic leukemia. The majority of these cases harbor somatic mutations in the GATA1 gene, which results in the loss of full-length GATA1. Only a truncated isoform of GATA1 that lacks the N-terminal 83 amino acids (GATA1-S) remains. We found through genetic studies of 106 patients ...
متن کاملTransient abnormal myelopoiesis accompanied by hepatic fibrosis in two infants with Down syndrome.
Two necropsy cases of Down syndrome are reported. These showed transient abnormal myelopoiesis accompanying characteristic hepatic sinusoidal fibrosis. Numerous megakaryocytes were found in the liver of one case, but not in the other. Only eight cases of Down syndrome with simultaneous occurrence of hepatic fibrosis and transient abnormal myelopoiesis have been reported. The cases described her...
متن کاملPrenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus
We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and c...
متن کاملMonoclonal nature of transient abnormal myelopoiesis in Down's syndrome.
Neonates with Down's syndrome occasionally show an excess of blasts in their peripheral blood. This disorder spontaneously resolves within several months and is called transient abnormal myelopoiesis (TAM) or transient myeloproliferative disorder. It has been uncertain whether the excess of blasts in TAM is a result of a clonal proliferation or a polyclonal reactive condition. The clonality of ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2005
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s00431-004-1617-4