Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

doi:10.1038/ng.3253

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Article

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Nature genetics - 1 May 2015

Noetzli Leila, Lo Richard W, Lee-Sherick Alisa B, Callaghan Michael, Noris Patrizia, Savoia Anna, Rajpurkar Madhvi, Jones Kenneth, Gowan Katherine, Balduini Carlo, Pecci Alessandro, Gnan Chiara, De Rocco Daniela, Doubek Michael, Li Ling, Lu Lily, Leung Richard, Landolt-Marticorena Carolina, Hunger Stephen, Heller Paula, Gutierrez-Hartmann Arthur, Xiayuan Liang, Pluthero Fred G, Rowley Jesse W, Weyrich Andrew S, Kahr Walter H A, Porter Christopher C, Di Paola Jorge

Abstract excerpt

Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. We identified a family with autosomal dominant thrombocytopenia, high erythrocyte mean corpuscular volume (MCV) and two occurrences of B cell-precursor acute lymphoblastic leukemia (ALL). Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets...

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Identifiers

PMID: 25807284
DOI: 10.1038/ng.3253
PMCID: PMC4631613

Genes

ETV6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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