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Article

Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children.

European journal of pediatrics - 1 Apr 2015

Ono Rintaro, Hasegawa Daisuke, Hirabayashi Shinsuke, Kamiya Takahiro, Yoshida Kenichi, Yonekawa Satoko, Ogawa Chitose, Hosoya Ryota, Toki Tsutomu, Terui Kiminori, Ito Etsuro, Manabe Atsushi

Abstract excerpt

UNLABELLED: GATA1 mutations are found almost exclusively in children with myeloid proliferations related to Down syndrome (DS). Here, we report two phenotypically and cytogenetically normal children with acute megakaryoblastic leukemia (AMKL) whose blasts had both acquired trisomy 21 and GATA1 mutation. Patient 1 was diagnosed with transient abnormal myelopoiesis in the neonatal period. Following spontaneous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25266042
DOI: 10.1007/s00431-014-2430-3

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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