Document Detail

Transient Myeloproliferative Disorder and GATA1 Mutation in Neonates With and Without Down Syndrome.
MedLine Citation:
PMID:  21287369     Owner:  NLM     Status:  Publisher    
OBJECTIVE: To report clinical experiences and cytogenetic findings of transient myeloproliferative disorder (TMD) in neonates with and without Down syndrome (DS). METHODS: GATA1 gene was screened in DNA samples from neonates presenting with TMD during their leukemic and remission status. RESULTS: Six neonates (2 phenotypically normal and 4 DS) born in the past 6 years had presented with TMD; all had trisomy 21 during leukemic status. Two DS infants died during early infancy, one of hepatic failure and one of cardiac complication. One non-DS infant evolved into myelodysplastic syndrome (MDS) and acute leukemia since 14 months old. Three other patients have not developed true leukemia after follow-up of 8, 9, and 70 months, respectively. The authors detected mutations within exon 2 of GATA1 gene in 3 DS and 2 non-DS infants. All these mutations disappeared after remission of TMD, but an identical mutation was detected in one non-DS patient when evolving into MDS. Trisomy 21 was confined to leukemic clone in non-DS patients. CONCLUSIONS: TMD should be considered in case of congenital leukemia with megakaryoblastic features and accompanied by trisomy 21 and GATA1 mutation. Both DS and non-DS patients will possibly develop true leukemia within few years.
Ming-Horng Tsai; Jia-Woei Hou; Chao-Ping Yang; Pong-Hong Yang; Shih-Ming Chu; Jen-Fu Hsu; Ming-Chou Chiang; Hsuan-Rong Huang
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-2
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  -     ISSN:  0973-7693     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Division of Pediatric Hematology/Oncology, Department of Pediatrics, Chang Gung Memorial Hospital, 5, Fu-Shing St, Kwei-Shan, Taoyuan, 333, Taiwan.
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