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A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome.

Leukemia & lymphoma - 1 Sept 2024

Wang Cassandra P, Ferreira Juanita E, Placek Alexander, Aguayo-Hiraldo Paibel, Raca Gordana, Wood Brent L, Miller Karin P, Coates Thomas, Freyer David R, Kovach Alexandra E

Abstract excerpt

Germline variants of the RUNX1 gene are associated with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies (RUNX1-FPDMM), which is characterized by an increased risk of developing myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. Patients with FPDMM have also been described to develop B- or T-cell acute lymphoblastic leukemia. We present a pediatric patient with RUNX1-FPDMM that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38733629
DOI: 10.1080/10428194.2024.2347577

Genes

RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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