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Article

Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.

Haematologica - 1 Sept 2025

Kotmayer Lili, Kennedy Alyssa L, Wlodarski Marcin W

Abstract excerpt

Pediatric myelodysplastic syndromes (MDS) represent a rare group of clonal hematopoietic stem cell disorders accounting for approximately 5% of pediatric hematologic malignancies. They are characterized by ineffective hematopoiesis, cytopenia, and dysplastic changes in the bone marrow with variable risk of progression to acute myeloid leukemia. Unlike adult MDS, pediatric cases predominantly present with...

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Identifiers

PMID: 40568716
DOI: 10.3324/haematol.2024.285700
PMCID: PMC12399944

Genes

ASXL1
CBL
GATA2
KRAS
NPM1
NRAS
PTPN11
RUNX1
SAMD9
SAMD9L
SETBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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