A Retrospective 5-Year Single Center Study Highlighting the Risk of Cancer Predisposition in Adolescents and Young Adults

SIMPLE SUMMARY: Genetic disposition to malignancies represents a significant factor in the diagnosis and treatment of cancer patients, as well as for pre- and post-treatment care of patients and their relatives. In our work, we point out the specific distribution of malignancies in adolescents and young adult patients (AYAs), highlighting the association with an increased risk of genetic predisposition. Genetic disposition requires special attention, especially for AYA patients. Knowledge of an underlying inherited cancer susceptibility facilitates individualized therapies and targeted efforts in cancer surveillance and prevention. With our work, we seek to contribute to a more consistent integration of the screening of AYAs for hereditary cancer predisposition into daily practice in the future. ABSTRACT: The knowledge of inherited cancer susceptibility opens a new field of cancer medicine. We conducted a retrospective single-center cohort study. Data of AYA cancer patients registered between January 2014 and December 2018 were analyzed. The median age at cancer diagnosis of 704 patients (343 males, 361 females) was 32 years (range, 15–39 years), median follow-up was 181 days (range, 1–1975 days). Solid tumors were diagnosed in 575 (81.7%) patients, hematologic malignancies in 129 (18.3%) patients. Multiple primary cancers were reported in 36 (5.1%) patients. Malignancies that may be indicators of inherited cancer susceptibility were diagnosed in 2.6% of patients with cancers of the endocrine system, in 73% of cancers of the gastrointestinal system, in 88% of tumors of the central nervous system, in 92% of cancers of the urinary tract, and in 59% of head and neck tumors. In addition, all patients with breast cancer, sarcoma, and peripheral nerve sheath tumor were in need of genetic counselling. In sum, at least 181 of 704 (25.7%) AYA cancer patients presented with malignancies suspicious of harboring pathogenic germline variants. Evaluation of AYA cancer patients for hereditary cancer predisposition needs to be integrated into daily practice.