Pediatric and Adolescent Gynecological Tumors and Associated Predisposition Syndromes

There are well-known associations between various types of adult-onset gynecological cancers and tumor predisposition syndromes, but less is known about gynecological tumor predisposition syndromes in the pediatric and adolescent population. With advancing genetic technology and more extensive testing, we have come to learn that ∼10%-20%, if not more, of benign and malignant pediatric neoplasms result from a germline variant in a tumor predisposition gene. Gynecological neoplasms found in this population can be inherited, but they can also arise from a de novo gene variant. So too, some syndromes display incomplete penetrance, so not all affected family members will present with disease, and most of these syndromes show variable expressivity such that affected family members can present differently, which can potentially disguise a familial syndrome. Herein, we review what is known about the predisposition syndromes associated with gynecological neoplasms arising in infancy through young adulthood and emphasize the importance of a genetic work-up even in the absence of a recognizable family history. Identification of germline variants allow for appropriate long-term tumor surveillance, as well as genetic counseling and targeted gene variant testing for other family members who may also be at risk and benefit from tumor surveillance.