Transcriptomic and genomic profiling of early-stage ovarian carcinomas associated with histotype and overall survival.

Engqvist H, Parris TZ, Rönnerman EW, Söderberg EMV, Biermann J, Mateoiu C, Sundfeldt K, Kovács A, Karlsson P, Helou K

Oncotarget 9 (80) 35162-35180 [2018-10-12; online 2018-10-12]

Ovarian cancer is the most lethal gynecological malignancy in the western world. Despite recent efforts to characterize ovarian cancer using molecular profiling, few targeted treatment options are currently available. Here, we examined genetic variants, fusion transcripts, SNP genotyping, and gene expression patterns for early-stage (I and II) ovarian carcinomas (n=96) in relation to clinicopathological characteristics and clinical outcome, thereby identifying novel genetic features of ovarian carcinomas. Furthermore, mutation frequencies of specific genetic variants and/or their gene expression patterns were associated with histotype and overall survival, e.g. SLC28A2 (mucinous ovarian carcinoma histotype), ARCN1 (low expression in 0-2 year survival group), and tumor suppressor MTUS1 (mutation status and overall survival). The long non-coding RNA MALAT1 was identified as a highly promiscuous fusion transcript in ovarian carcinoma. Moreover, gene expression deregulation for 23 genes was associated with tumor aggressiveness. Taken together, the novel biomarkers identified here may improve ovarian carcinoma subclassification and patient stratification according to histotype and overall survival.

NGI Stockholm (Genomics Applications) [Service]

NGI Stockholm (Genomics Production) [Service]

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PubMed 30416686

DOI 10.18632/oncotarget.26225

Crossref 10.18632/oncotarget.26225

26225

pmc PMC6205557