Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes.

doi:10.1182/blood-2011-12-400994

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Article

Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes.

Blood - 5 Apr 2012

Damm Frederik, Kosmider Olivier, Gelsi-Boyer Véronique, Renneville Aline, Carbuccia Nadine, Hidalgo-Curtis Claire, Della Valle Véronique, Couronné Lucile, Scourzic Laurianne, Chesnais Virginie, Guerci-Bresler Agnes, Slama Bohrane, Beyne-Rauzy Odile, Schmidt-Tanguy Aline, Stamatoullas-Bastard Aspasia, Dreyfus François, Prébet Thomas, de Botton Stéphane, Vey Norbert, Morgan Michael A, Cross Nicholas C P, Preudhomme Claude, Birnbaum Daniel, Bernard Olivier A, Fontenay Michaela

Abstract excerpt

A cohort of MDS patients was examined for mutations affecting 4 splice genes (SF3B1, SRSF2, ZRSR2, and U2AF35) and evaluated in the context of clinical and molecular markers. Splice gene mutations were detected in 95 of 221 patients. These mutations were mutually exclusive and less likely to occur in patients with complex cytogenetics or TP53 mutations. SF3B1(mut) patients presented with lower hemoglobin levels,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22343920
DOI: 10.1182/blood-2011-12-400994

Genes

ZRSR2
SRSF2
TET2
ASXL1

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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