Mutational Landscape and Gene Expression Patterns in Adult Acute Myeloid Leukemias with Monosomy 7 as a Sole Abnormality

摘要: Monosomy of chromosome 7 is the most frequent autosomal monosomy in acute myeloid leukemia (AML), where it associates with poor clinical outcomes. However, molecular features associated this sole subtype (-7 AML), which may give insights into basis for its prognosis, have not been characterized. In study, we analyzed 36 cases -7 AML mutations 81 leukemia/cancer-associated genes using a customized targeted next-generation sequencing panel (Miseq). Global gene and miRNA expression profiles were also determined paired RNA small data. Notably, detected all major AML-associated functional groups, include activated signaling, chromatin remodeling, cohesin complex, methylation, NPM1, spliceosome, transcription factors, tumor suppressors. Gene remodeling groups relatively more patients <60 years age, who had less methylation spliceosome compared ≥60 age. Novel recurrent mutational events identified SMARCA2 gene. presence lower complete remission rate (P = 0.03). revealed distinct patterns between non cases, reduced expression, as expected, many miRNAs mapped to 7, overexpression ID1, MECOM, PTPRM, among others. Overall, our findings illuminate number underlying aggressive pathobiology patients. Cancer Res; 77(1); 207-18. ©2016 AACR.