ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS)

PTEN hamartoma tumour syndrome (PHTS) is a diverse multi-system disorder predisposing to a high hereditary risk of breast, thyroid, endometrial, and a moderate risk of renal, and colorectal cancer and skin melanoma. Besides the risk of cancer, PHTS is also associated with benign tumours such as skin and connective tissue tumours, vascular malformations and neurodevelopmental disorders, including autism spectrum disorders. New evidence on cancer risks and the effectiveness of surveillance has been published since the last iteration of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) guidelines from 2020, necessitating the update presented here A comprehensive literature review was undertaken, and guidelines were revised by clinicians with PHTS expertise from relevant medical disciplines, together with PHTS patients and their representatives. Revised recommendations were put forward for surveillance for breast, thyroid, endometrial, renal, and colorectal cancer and skin melanoma. The proposed cancer surveillance recommendations for PHTS require significant patient commitment as well as a coordinated multidisciplinary medical approach. There is a need for prospective evaluation of the effectiveness of these recommendations in the PHTS population.