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The spectrum of somatic mutations in high‐risk acute myeloid leukaemia with ‐7/del(7q)
Author(s) -
McNerney Megan E.,
Brown Christopher D.,
Peterson April L.,
Banerjee Mekhala,
Larson Richard A.,
Anastasi John,
Le Beau Michelle M.,
White Kevin P.
Publication year - 2014
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12964
Subject(s) - myeloid , somatic cell , cancer research , biology , mutation , dna methylation , myeloid leukemia , immunology , gene , medicine , genetics , gene expression
Summary ‐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.