title: A novel truncated form ofHMGA2in tumors of the ovaries.
abstract: Neoplasms of the ovary are the second most common tumor of the female reproductive system, and the most lethal of the gynecological malignancies. Ovarian tumors are divided into a copious number of different groups reflecting their different features. The present study analyzed 187 ovarian tumors (39 sex-cord stromal tumors, 22 borderline tumors and 126 carcinomas) for the expression of the high-mobility group AT-hook 2 (HMGA2) gene, for mutations in the isocitrate dehydrogenase (NADP(+)) 1, cytosolic (IDH1), isocitrate dehydrogenase (NADP(+)) 2, mitochondrial (IDH2) and telomerase reverse transcriptase (TERT) genes, and for methylation of the O6-methylguanine-DNA methyltransferase (MGMT) promoter. Reverse transcription-polymerase chain reaction analysis showed thatHMGA2was expressed in 74.5% of the samples (120/161). A truncated transcript ofHMGA2was identified in 11 cases. A novel truncated form ofHMGA2was found in 4 serous high-grade carcinomas. Only 4 tumors (4/185) showed theTERTC228T mutation. NoIDH1orIDH2mutations were found. Methylation of the promoter ofMGMTwas found in 2 borderline tumors (2/185).HMGA2was expressed, in its truncated and native form, in different ovarian tumors, even the less aggressive types, underscoring the general importance of this gene in ovarian tumorigenesis. Mutations involvingTERT, as well asMGMTpromoter methylation, are rare events in ovarian tumors.
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, 0310 Oslo, Norway.
authors.forename: Antonio
authors.initials: A
authors.lastname: Agostini
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, 0310 Oslo, Norway.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.affiliation: Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway; Faculty of Medicine, University of Oslo, 0310 Oslo, Norway.
authors.forename: Ben
authors.initials: B
authors.lastname: Davidson
authors.affiliation: Department of Gynecology, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway.
authors.forename: Claes Goran
authors.initials: CG
authors.lastname: Trope
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, 0310 Oslo, Norway; Faculty of Medicine, University of Oslo, 0310 Oslo, Norway.
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, 0310 Oslo, Norway.
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
keywords: HMGA2; IDH1; IDH2; MGMT; TERT; ovarian tumors