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

Abstract:

Summary: 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. SE...

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Publisher copy:
10.1111/bjh.12491

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Journal:
British Journal of Haematology More from this journal
Volume:
163
Issue:
2
Pages:
235-239
Publication date:
2013-10-01
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
Language:
English
Keywords:
Pubs id:
pubs:434969
UUID:
uuid:fc74f7aa-b96b-41e0-ab6a-15a55f158085
Local pid:
pubs:434969
Source identifiers:
434969
Deposit date:
2013-12-14

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