Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

doi:10.1056/NEJMoa1103283

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Article

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

The New England journal of medicine - 13 Oct 2011

Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat J S, Hellstrom-Lindberg E, Gambacorti-Passerini C, Godfrey A L, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie L J, Stephens P J, McLaren S, Massie C E, Tarpey P S, Varela I, Nik-Zainal S, Davies H R, Shlien A, Jones D, Raine K, Hinton J, Butler A P, Teague J W, Baxter E J, Score J, Galli A, Della Porta M G, Travaglino E, Groves M, Tauro S, Munshi N C, Anderson K C, El-Naggar A, Fischer A, Mustonen V, Warren A J, Cross N C P, Green A R, Futreal P A, Stratton M R, Campbell P J

Abstract excerpt

BACKGROUND: Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies. METHODS: We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with low-grade myelodysplasia. Targeted...

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Identifiers

PMID: 21995386
DOI: 10.1056/NEJMoa1103283
PMCID: PMC3322589

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