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Case Reports
. 2025 Mar 18;24(2):28.
doi: 10.1007/s10689-025-00453-z.

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

Ane J Schei-Andersen  1   2 , Vera M Witjes  1   2 , Janet R Vos  1   2 , Arjen R Mensenkamp  1   2 , Anne van Altena  3 , Jolanda Schieving  4 , Michiel Simons  5 , Janneke H M Schuurs-Hoeijmakers  1   2 ; PTEN Study Group; Nicoline Hoogerbrugge  6   7   8
Collaborators, Affiliations
Case Reports

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

Ane J Schei-Andersen et al. Fam Cancer. .

Abstract

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

Keywords: Genetics; Hereditary cancer; Ovarian cancer; PHTS; PTEN; Phenotype.

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Conflict of interest statement

Declarations. Conflict of interest: None disclosed.

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