Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome

European Journal of Medical Genetics(2023)

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摘要
•PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic disorder with an elevated lifetime risk for endometrial cancer.•Current advices for endometrial cancer surveillance (ECS) are based on expert-opinion due to the lack of real-life data.•In this study, seven of 25 (28%) women developed hyperplasia (a premalignancy), of whom six were asymptomatic.•Annual ECS in women with PHTS from age 30 onwards may be beneficial with regard to endometrial cancer prevention.•ECS should consist of both transvaginal ultrasound and endometrial biopsy.
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关键词
PTEN Phosphohydrolase, Neoplastic syndromes, Hereditary, Endometrial neoplasms, Endometrial hyperplasia, Population surveillance, Early detection of cancer
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