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Background  The  PTEN -hamartoma-tumor-syndrome (PHTS) is caused by germline mutations in  Phosphatase and Tensin homolog (PTEN)  and predisposes to the development of several typical malignancies. Whereas  PTEN  mutations have been implicated in the occurrence of malignant mesotheliomas, the genetic landscape of verrucous carcinomas (VC) is largely uncharted. Both VC and malignant peritoneal mesotheliomas (MPM) are exceedingly rare and a potential link between these malignancies and PHTS has never been reported.    Case presentation  We here describe the clinical course of a PHTS patient who, in addition to a typical thyroid carcinoma at the age of 36 years, developed a highly-differentiated oral VC and an epithelioid MPM six years later. The patient with a history of occupational asbestos exposure underwent cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for MPM. The clinical diagnosis of PHTS was consequently corroborated by a germline  PTEN  deletion. Sequencing of tumor tissue revealed a second hit in  PTEN  in the thyroid carcinoma and VC, confirmed by a  PTEN  loss and activation of the PI3K/AKT pathway in immunohistochemistry. Furthermore, additional somatic mutations in the thyroid carcinoma as well as in the VC were detected, whereas the genetics of MPM remained unrevealing.    Discussion and conclusions  We here report the very unusual clinical course of a patient with rare tumors that have a germline mutation first hit in  PTEN  in common. Since this patient was exposed to asbestos and current evidence suggests molecular mechanisms that might render PHTS patients particularly susceptible to mesothelioma, we strongly recommend PHTS patients to avoid even minimal exposure.    Electronic supplementary material  The online version of this article (10.1186/s12881-018-0651-4) contains supplementary material, which is available to authorized users.

bmc medical genetics

First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications