Objective: To study tumor suppressor gene PTEN's role in the tumorigenesis of bone and soft tissue tumors.
Methods: Exon 4 approximately 9 of PTEN were amplified by polymerase chain reaction (PCR) for homozygous deletions in 110 tumor samples of patients with bone and soft tissue tumors, 3 tumor cell lines. PTEN mutations were detected by a combination of single strand conformation polymorphism (SSCP) analysis and DNA sequencing. Normal tissue beside tumors was used as control.
Results: There were always products of amplified exon 4 approximately 9 of PTEN, so no homozygous deletions existed. No homozygous deletions presented as variant band was not found by SSCP analysis. Two kinds of band type appeared in exon 8. A g/t polymorphism was found 32 bp from the splice donor site of intron 8 in six tumors.
Conclusions: At the level of DNA, PTEN mutations do not play major roles in the tumorigenesis of bone and soft tissue tumors. The polymorphism of PTEN gene exists in Chinese people.