Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms
O Abdel-Wahab, A Pardanani, J Patel, M Wadleigh… - Leukemia, 2011 - nature.com
O Abdel-Wahab, A Pardanani, J Patel, M Wadleigh, T Lasho, A Heguy, M Beran…
Leukemia, 2011•nature.comSomatic mutations in EZH2 and ASXL1 have recently been reported in myelofibrosis (MF)
and chronic myelomonocytic leukemia (CMML). 1–4 The current study examines the
frequency of these mutations in a larger cohort of patients with these diseases and their
correlation with other myeloproliferative neoplasm (MPN)-associated mutations and disease
phenotype. Given that many earlier studies of mutations in ASXL1 did not utilize paired
normal tissue, and have largely reported mutations occurring in exon 12 (refs 3, 5–7), we …
and chronic myelomonocytic leukemia (CMML). 1–4 The current study examines the
frequency of these mutations in a larger cohort of patients with these diseases and their
correlation with other myeloproliferative neoplasm (MPN)-associated mutations and disease
phenotype. Given that many earlier studies of mutations in ASXL1 did not utilize paired
normal tissue, and have largely reported mutations occurring in exon 12 (refs 3, 5–7), we …
Somatic mutations in EZH2 and ASXL1 have recently been reported in myelofibrosis (MF) and chronic myelomonocytic leukemia (CMML). 1–4 The current study examines the frequency of these mutations in a larger cohort of patients with these diseases and their correlation with other myeloproliferative neoplasm (MPN)-associated mutations and disease phenotype. Given that many earlier studies of mutations in ASXL1 did not utilize paired normal tissue, and have largely reported mutations occurring in exon 12 (refs 3, 5–7), we also present previously unpublished/unannotated data regarding novel somatic missense mutations/single-nucleotide polymorphisms (SNPs) throughout the coding region of
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