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

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2025-03-18 DOI:10.1007/s10689-025-00453-z

Ane J Schei-Andersen, Vera M Witjes, Janet R Vos, Arjen R Mensenkamp, Anne van Altena, Jolanda Schieving, Michiel Simons, Janneke H M Schuurs-Hoeijmakers, Nicoline Hoogerbrugge

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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.

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PTEN Hamartoma 肿瘤综合征中的非浆液性卵巢癌：风险增加的额外证据。

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来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.