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Br J Haematol. 2014 Aug;166(4):550-6. doi: 10.1111/bjh.12964. Epub 2014 Jun 13.

The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).

Author information

1
Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL, USA; Department of Pathology, University of Chicago, Chicago, IL, USA; Comprehensive Cancer Center, University of Chicago, Chicago, IL, USA.

Abstract

-7/del(7q) occurs in half of myeloid malignancies with adverse-risk cytogenetic features and is associated with poor survival. We identified the spectrum of mutations that co-occur with -7/del(7q) in 40 patients with de novo or therapy-related myeloid neoplasms. -7/del(7q) leukaemias have a distinct mutational profile characterized by low frequencies of alterations in genes encoding transcription factors, cohesin and DNA-methylation-related proteins. In contrast, RAS pathway activating mutations occurred in 50% of cases, a significantly higher frequency than other acute myeloid leukaemias and higher than previously reported. Our data provide guidance for which pathways may be most relevant in the treatment of adverse-risk myeloid leukaemia.

KEYWORDS:

CUX1; monosomy 7; myeloid leukaemia

PMID:
24931631
PMCID:
PMC5479678
DOI:
10.1111/bjh.12964
[Indexed for MEDLINE]
Free PMC Article

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