The genetic tumor risk syndrome PTEN Hamartoma Tumor Syndrome (PHTS) is caused by pathogenic germline variants in PTEN. PHTS is characterized by multi-systemic overgrowth, including macrocephaly, mucocutaneous lesions, vascular malformations, gastrointestinal lesions, Lhermitte-Duclos disease and benign hamartomatous tumors [1]. Here, PTEN is linked to PTEN hamartoma tumor syndrome.