Longitudinal analysis of cancer risk in children and adults with germline PTEN variants

Identifying hereditary cancer predisposition facilitates high-risk organ-specific cancer surveillance and prevention. A prospective longitudinal cohort study of 701 patients with germline PTEN variants (PTEN hamartoma tumor syndrome, PHTS) found that approximately half of the patients had at least one cancer diagnosis, with significantly elevated risks for breast (91%), endometrial (48%), thyroid (33%), kidney (30%), and colorectal cancers (17%), as well as melanoma (5%). Cancer diagnoses were also observed in children and young adults with PHTS (15%) and in patients with PHTS with neurodevelopmental disorders (11%). The authors conclude that organ-specific surveillance should continue in patients with germline PTEN variants.