Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk

• DOI: 10.1007/s10689-025-00453-z
• Publication Date: 2025-03-18T11:07:58Z
• Authors: Ane J. Schei-Ande...; Vera M. Witjes; Janet R. Vos; Arjen R. Mensenkamp; Anne van Altena; Jolanda Schieving; Michiel Simons; Janneke H. M. Sch...; ; Muriel A. Adank; Liselotte P. van ...; Yvette van Ierland; Mirjam de Jong; Marjolijn C. J. J...; Edward M. Leter; Maartje Nielsen; Nicoline Hoogerbr...
• Keywords: Cowden syndrome

Increased hereditary cancer risk is one of the hallmarks PTEN Hamartoma Tumor Syndrome (PHTS) which caused by a pathogenic germline variant in PTEN. Case reports and some cohort studies have described ovarian (OC) PHTS patients. Previously, we observed an enrichment non-serous OC compared to sporadic cases (3% vs 1%). However, currently not considered PHTS-related cancer. The aim this study was describe five patients with OC. Three OCs were mucinous carcinomas (49, 51 52 years) two malignant germ cell tumors (8 15 all diagnosed before genetic testing diagnosis. In addition OC, developed other benign lesions. We provide further evidence that cancer, especially mucinous, endometrioid should be investigated as potential cancers.