Genetic Counseling for Childhood Cancer Predisposition Syndromes: A Six-Year Retrospective Study.
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Background: Cancer predisposition syndromes (CPS) are increasingly recognized in pediatric oncology. In many cases, malignancy in children represents one manifestation of a broader genetic syndrome, often accompanied by dysmorphic features or other distinctive clinical findings. Methods: Clinical documentation and genetic test reports of pediatric patients evaluated over a six-year period (2020-2025) at a genetic counseling unit in a tertiary university hospital in Varna, Bulgaria, were retrospectively reviewed. Referral patterns, clinical characteristics, and genetic findings in children assessed for suspected CPS were analyzed. Results: In total, 430 children underwent genetic testing during the study period; among them, 42 fulfilled the criteria for CPS and were subsequently included in the analysis. Patients were categorized into three groups: those with malignancy (21.4%), those with high-risk hematologic/immune features without malignancy (9.5%), and those referred based on phenotypic features alone (69.0%). Most referrals originated outside oncology services, primarily from general pediatric clinics and outpatient settings, highlighting the importance of non-oncologists in early CPS recognition. Multisystem phenotypic features were common, with 69.0% of patients exhibiting involvement of two or more clinical domains. Genetic testing, predominantly using multigene panels and exome sequencing, identified clinically relevant variants in established CPS genes, most frequently in autosomal dominant conditions within this diagnosis-confirmed cohort. The most common diagnostic categories included NF1 spectrum disorders and RASopathies. Conclusions: These findings emphasize that CPS identification often relies on recognition of non-oncologic features rather than malignancy alone. Genetic counseling plays a central role in diagnosis, risk assessment, and cascade testing. Strengthening awareness among general pediatricians and improving access to genetic services are critical for optimizing early detection and prevention strategies.