The INSPECT study

The PTEN Hamartoma Tumor Syndrome (PHTS) is a rare, genetic syndrome that is associated with an elevated cancer risk. Currently, cancer risk estimates for this patient group are incomplete and often overestimated, e.g. by selection bias or small study populations.

The INSPECT study (Investigation into PTEN-related cancer and phenotype) is a European study that aims to unravel the PHTS phenotype by understanding the phenotypic variability and estimating accurate and personalized cancer risks and prognoses. It is designed as a European multicenter observational cohort study and consists of a retrospective cohort (based on medical records), with prospective follow-up via cancer registries and questionnaires (in a pseudonymized way). INSPECT is coordinated by a research team of the Radboud university medical center in Nijmegen, the Netherlands, in close cooperation with expertise centers participating in the ‘European Reference Network Genetic Tumour risk Syndromes’ (ERN-GENTURIS).

All PHTS patients known at centers participating in ERN-GENTURIS as well as PHTS patients known at centres collaborating with ERN GENTURIS-centers will be approached to participate in this study.

Patients with a pathogenic germline variant in the PTEN gene (i.e. PHTS patients) or patients with a clinical PHTS phenotype and an a priori 50% risk of carrying a pathogenic PTEN germline variant, who are at least 18 years and mentally competent, can be included in the study. Patients will be identified using medical filing systems or diagnostic lab information systems.

Following up on the INSPECT study, a second study into cancer prognostics in PHTS patients will be initiated. PHTS patients with cancer from the INSPECT cohort will be included in this study. Data will be collected on the type of cancer and the treatment deployed. The prognosis in patients on various treatments will be compared to the prognosis of cancer patients without a PTEN mutation. This will enable specialists to give a more accurate cancer prognosis in PHTS patients and will also lead to more knowledge about most effective treatments .