Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

doi:10.3324/haematol.2016.147496

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Article

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Haematologica - 1 Nov 2016

Melazzini Federica, Palombo Flavia, Balduini Alessandra, De Rocco Daniela, Marconi Caterina, Noris Patrizia, Gnan Chiara, Pippucci Tommaso, Bozzi Valeria, Faleschini Michela, Barozzi Serena, Doubek Michael, Di Buduo Christian A, Kozubik Katerina Stano, Radova Lenka, Loffredo Giuseppe, Pospisilova Sarka, Alfano Caterina, Seri Marco, Balduini Carlo L, Pecci Alessandro, Savoia Anna

Abstract excerpt

ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. To gain further information on this disorder, we searched for ETV6 mutations in the 130 families with inherited thrombocytopenia of unknown origin from our cohort of 274 consecutive pedigrees with familial thrombocytopenia. We...

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Identifiers

PMID: 27365488
DOI: 10.3324/haematol.2016.147496
PMCID: PMC5394865

Genes

ETV6
RUNX1

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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