Objective: To establish the role of phosphate and tensin homologue on chromosome 10 (PTEN) mutations in tumorigenesis of the ovary, we determined the mutational spectrum of the PTENgene in surgical specimens of ovarian carcinomas.
Methods: The study group consisted of 86 ovarian cancer specimens (18 fluids, 68 solid specimens), including 30 primary ovarian cancer specimens and 56 of relapsed ovarian cancer from women with a median age of 57.9 years and a range of 27-85 years. Each of the nine exons of the PTEN gene was amplified separately by polymerase chain reaction (PCR). Both strands of the PCR products were sequenced directly by standard cycle sequencing procedures and subsequent computer-aided alignments with the wild-type sequence.
Results: In ascitic fluids of two women with recurrence of cancer, we observed mutations: one seven-base-pair insertion at codon 52 (GATGATG) and the other a base-pair substitution resulting in an amino acid change (T131I). We found no mutation in the primary ovarian cancers.
Conclusions: Our data indicate that PTEN mutations have a subordinate role in tumorigenesis of the ovary.