Somatic mutation of PTEN in vulvar cancer

PTEN, a candidate tumor suppressor gene located at chromosome 10q23.3, has been shown to be mutated in similar to 40% of endometrial cancers. Such mut ations have also been identified in endometrial hyperplasia, indicating tha t inactivation of the PTEN tumor suppressor gene is an early event in the g enesis of some endometrial cancers. In this study, we have extended the ana lysis of PTEN in gynecological cancer to include adenocarcinoma of the ceni x and vulvar carcinomas. Microdissected tissue (including normal tissues), preneoplastic, and neoplastic lesions were analyzed from 9 patients with ce rvical cancer and 10 patients with vulvar cancer. Only 1 cervical adenocarc inoma displayed a PTEN mutation. In contrast, five of eight vulvar carcinom as studied harbored PTEN mutations. Alterations were identified in carcinom a in situ as web as squamous cell carcinoma of the vulva. In two patients, PTEN mutations were identified in mucosal regions with mild or focal dyspla sia, These results suggest that PTEN is frequently altered in vulvar carcin omas and can be found associated with early dysplastic changes in vulvar mu cosa.