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Article

Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature.

Leukemia research - 1 Oct 2008

Shin Myung-Geun, Choi Hyun-Woo, Kim Hye-Ran, Kim Mi-Ji, Baek Hee-Jo, Han Dong-Kyun, Kook Hoon, Hwang Tai-Ju, Kim Hyoung-Joon, Kim Soo-Hyun, Shin Jong-Hee, Suh Soon-Pal, Ryang Dong-Wook

Abstract excerpt

We report a case of pediatric acute megakaryocytic leukemia (AMKL) showing 48,XX,+21,+21 as a sole acquired cytogenetic abnormality without the mutation of GATA1 gene. A physical examination showed a phenotypically normal female. Bone marrow findings showed diffuse infiltration of leukemic blasts having scanty cytoplasm with budding blebs and prominent nucleoli, which were negative for myeloperoxide (MPO) stain,...

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Share to Aneuploidy
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 21

Share to Cytogenetic Analysis

Share to GATA1 Transcription Factor

Share to GATA1 gene

Share to Leukemia, Megakaryoblastic, Acute

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Source

Identifiers

PMID: 18372039
DOI: 10.1016/j.leukres.2008.02.010

Genes

GATA1
MPO

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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