PTEN Hamartoma Tumor Syndrome (PHTS, or in short PTEN Syndrome) is a collective term for syndromes that are caused by a change (or mutation) in the PTEN gene, such as Cowden Syndrome. It is known that PHTS can cause various symptoms and that this can vary between patients.
◾ For example, many patients have a large head circumference;
◾ some have learning difficulties;
◾ others have special lumps;
◾ or sometimes people have had cancer.
The PTEN Hamartoma Tumor Syndrome (PHTS) is a rare hereditary disorder. Because PHTS is rare, little research has been done in large groups of patients. In order to be able to do research in a large group, the Radboudumc has started an international research project.
This research is called 'Investigation into PTEN-related cancer and phenotype' (INSPECT).A European cohort study on clinical features and cancer in PHTS patients’.
Medical doctors and patients from various European countries participate in this research. By working together, we can collect as much information as possible about a large group of patients with PHTS for research.
The aim of the INSPECT study is to precisely identify the clinical features, cancer risks and cancer prognoses of patients with PHTS and why there are big differences. In this way, we hope to learn more on how to recognize patients with PHTS in time and how the monitoring and treatment of patients with PHTS should take place.
Participating in the INSPECT study means that:
◾ you will receive a digital survey to complete on the computer;
◾ we will ask for your permission to retrieve and use your medical data in encrypted form;
◾ you do not have to visit the hospital for this study.
You can find more information about participation to the INSPECT study here.
Recently the first part of the INSPECT study has been finished. The results provide better cancer risk estimations for PHTS patients. You can read more about these results in the publication.