A novel truncated form of in tumors of the ovaries.

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 () gene, for mutations in the isocitrate dehydrogenase (NADP(+)) 1, cytosolic (), isocitrate dehydrogenase (NADP(+)) 2, mitochondrial () and telomerase reverse transcriptase () genes, and for methylation of the O-methylguanine-DNA methyltransferase () promoter. Reverse transcription-polymerase chain reaction analysis showed that was expressed in 74.5% of the samples (120/161). A truncated transcript of was identified in 11 cases. A novel truncated form of was found in 4 serous high-grade carcinomas. Only 4 tumors (4/185) showed the C228T mutation. No or mutations were found. Methylation of the promoter of was found in 2 borderline tumors (2/185). was 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 involving , as well as promoter methylation, are rare events in ovarian tumors.