Evidence map›Paper›PMID 21287369›Full record

ArticleIndian journal of pediatrics2011

Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome.

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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Article in Indian journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

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8citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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8 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Ming-Horng TsaiDivision of Pediatric Hematology/Oncology, Department of Pediatrics, Chang Gung Memorial Hospital, 5, Fu-Shing St, Kwei-Shan, Taoyuan 333, Taiwan.
Jia-Woei Hou
Chao-Ping Yang
Pong-Hong Yang
Shih-Ming Chu
Jen-Fu Hsu
Ming-Chou Chiang
Hsuan-Rong Huang

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo report clinical experiences and cytogenetic findings of transient myeloproliferative disorder (TMD) in neonates with and without Down syndrome (DS).

methodsGATA1 gene was screened in DNA samples from neonates presenting with TMD during their leukemic and remission status.

resultsSix 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.

conclusionsTMD 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.

Indexed as

Down SyndromeFemaleGATA1 Transcription FactorHumansInfant, NewbornLeukemia, Megakaryoblastic, AcuteMaleMyeloproliferative DisordersNeoplasm Regression, SpontaneousPoint MutationPolymerase Chain ReactionProspective StudiesGATA1 protein, humanGATA1 Transcription Factor

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.