title: Low frequency of ESRRA-C11orf20 fusion gene in ovarian carcinomas.
abstract: The identification of recurrent gene fusions in common epithelial cancers--for example, TMPRSS2/ERG in prostate cancer and EML4/ALK in nonsmall cell lung carcinomas--has raised the question of whether fusion genes are pathogenetically important also in ovarian carcinomas. The first recurrent fusion transcript in serous ovarian carcinomas was reported by Salzman et al. in 2011, who used deep paired-end sequencing to detect the fusion gene ESRRA-C11orf20 in 10 out of 67 (15%) serous ovarian carcinomas examined, a finding that holds great promise for our understanding of ovarian tumorigenesis as well as, potentially, for new treatment strategies. We wanted to test how frequent the ESRRA/C11orf20 fusion is in ovarian carcinomas of all subtypes, and therefore examined a series of 230 ovarian carcinomas of which 197 were of the serous subtype and 163 of the 197 were of stages III and IV--that is, the very same carcinoma subset where the fusion transcript had been found. We performed PCR and high-throughput sequencing analyses in search of the fusion transcript. We used the same primers described previously for the detection of the fusion and the same primer combination, but found no ESRRA/C11orf20 fusion in our series. A synthetic DNA plasmid containing the reported ESRRA/C11orf20 fusion was included as a positive control for our PCR experiments. Data from high-throughput sequencing of 23 ovarian carcinomas were screened in search of alternative partner(s) for the ESRRA and/or C11orf20 gene, but none was found. We conclude that the frequency of the ESRRA/C11orf20 gene fusion in serous ovarian carcinomas of stages III and IV must be considerable less than that reported previously (0/163 in our experience compared with 10/67 in the previous study). At the very least, it seems clear that the said fusion cannot be a common pathogenetic event in this tumor type.
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway.
authors: Francesca
authors: F
authors: Micci
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway.
authors: Ioannis
authors: I
authors: Panagopoulos
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway.
authors: Jim
authors: J
authors: Thorsen
authors: Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ; Faculty of Medicine, University of Oslo, Oslo, Norway.
authors: Ben
authors: B
authors: Davidson
authors: Department of Gynecology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors: Claes Gøran
authors: CG
authors: Tropé
authors: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ; Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway ; Faculty of Medicine, University of Oslo, Oslo, Norway.
authors: Sverre
authors: S
authors: Heim
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D006801:Humans; D009367:Neoplasm Staging; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011960:Receptors, Estrogen / Q000235:genetics*; D000097983:ERRalpha Estrogen-Related Receptor
chemical_list: D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D011960:Receptors, Estrogen; D000097983:ERRalpha Estrogen-Related Receptor; C000592242:CATSPERZ protein, human