Schei-Andersen Ane J, Witjes Vera M, Vos Janet R, Mensenkamp Arjen R, van Altena Anne, Schieving Jolanda, Simons Michiel, Schuurs-Hoeijmakers Janneke H M, Hoogerbrugge Nicoline
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Radboud Institute of Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Fam Cancer. 2025 Mar 18;24(2):28. doi: 10.1007/s10689-025-00453-z.
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.
遗传性癌症风险增加是PTEN错构瘤肿瘤综合征（PHTS）的特征之一，该综合征由PTEN基因种系致病性变异引起。病例报告和一些队列研究描述了PHTS患者中的卵巢癌（OC）。此前，我们观察到与散发性病例相比，PHTS患者中非浆液性OC更为常见（3%对1%）。然而，目前卵巢癌不被认为是与PHTS相关的癌症。本研究的目的是描述5例PTEN基因种系致病性变异且患有非浆液性OC的PHTS患者。其中3例非浆液性OC为黏液性癌（分别为49、51和52岁），2例为恶性生殖细胞肿瘤（分别为8岁和15岁），所有病例均在基因检测和PHTS诊断之前确诊。除OC外，所描述的患者还出现了其他与PHTS相关的良性和恶性病变。我们提供了进一步的证据，表明非浆液性卵巢癌，尤其是黏液性、子宫内膜样和恶性生殖细胞肿瘤应作为潜在的与PHTS相关的癌症进行进一步研究。
