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

Abstract:

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 shortened overall survival and increased risk of leukaemic evolution. SETBP1 muta...

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Publication status:
Published

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Publisher copy:
10.1111/bjh.12491

Authors


Fernandez-Mercado, M More by this author
Pellagatti, A More by this author
Di Genua, C More by this author
Larrayoz, MJ More by this author
Winkelmann, N More by this author
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Journal:
British journal of haematology
Volume:
163
Issue:
2
Pages:
235-239
Publication date:
2013-10-05
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
URN:
uuid:e3da2d82-8bbe-404c-9af1-2cff9aec4d9a
Source identifiers:
415366
Local pid:
pubs:415366

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