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Article

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

British journal of haematology - 1 Oct 2013

Fernandez-Mercado Marta, Pellagatti Andrea, Di Genua Cristina, Larrayoz Maria Jose, Winkelmann Nils, Aranaz Paula, Burns Adam, Schuh Anna, Calasanz Maria Jose, Cross Nicholas C P, Boultwood Jacqueline

Abstract excerpt

Whole exome sequencing was performed in a patient with myelodysplastic syndrome before and after progression to acute myeloid leukaemia. Mutations in several genes, including SETBP1, were identified following leukaemic transformation. Screening of 328 patients with myeloid disorders revealed SETBP1 mutations in 14 patients (4·3%), 7 of whom had -7/del(7q) and 3 had i(17)(q10), cytogenetic markers associated with...

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Share to Cell Transformation, Neoplastic
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 7

Share to Leukemia, Myelomonocytic, Chronic

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Source

Identifiers

PMID: 23889083
DOI: 10.1111/bjh.12491

Genes

SETBP1

Provenance

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Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.PMID 23889083Read ↗

Somatic SETBP1 mutations in myeloid malignancies.Semantic proximity Read ↗

Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.Semantic proximity Read ↗

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SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndromeSemantic proximity Read ↗

Somatic Mutations in Schinzel-Giedion Syndrome Gene SETBP1 Determine Progression in Myeloid MalignanciesSemantic proximity Read ↗

SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.Semantic proximity Read ↗

SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.Semantic proximity Read ↗

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The impact of SETBP1 mutations in neurological diseases and cancer.Semantic proximity Read ↗

Somatic SETBP1 mutations in myeloid neoplasmsSemantic proximity Read ↗

Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia.Semantic proximity Read ↗

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