Genetic Counseling for Childhood Cancer Predisposition Syndromes: A Six-Year Retrospective Study
Milena Stoyanova1,2, Dinnar Yahya1,2, Mari Hachmeriyan1,2
1Department of Medical Genetics, Medical University Varna, Marin Drinov Str 55, 9000 Varna, Bulgaria.
Children (Basel, Switzerland)
|June 26, 2026
Summary
Cancer predisposition syndromes (CPS) are often identified by non-oncologic features, not just malignancy. Early recognition and genetic counseling are crucial for pediatric cancer risk assessment and prevention.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Genomic Medicine
Background:
- Cancer predisposition syndromes (CPS) are increasingly recognized in pediatric oncology.
- Malignancy in children can be a manifestation of broader genetic syndromes with distinctive clinical findings.
- Early identification of CPS is critical for risk assessment and management.
Purpose of the Study:
- To analyze referral patterns, clinical characteristics, and genetic findings in pediatric patients assessed for suspected CPS.
- To evaluate the role of non-oncologists and genetic counseling in CPS diagnosis.
- To identify common CPS categories and genetic variants in a pediatric cohort.
Main Methods:
- Retrospective review of clinical documentation and genetic test reports.
- Analysis of 430 pediatric patients evaluated over a six-year period (2020-2025).
- Genetic testing using multigene panels and exome sequencing.
Main Results:
- 42 pediatric patients met CPS criteria, with 21.4% having malignancy and 69.0% referred based on phenotypic features alone.
- Most referrals originated from general pediatric clinics, highlighting the importance of non-oncologists.
- Multisystem involvement was common; NF1 spectrum disorders and RASopathies were frequent diagnoses.
Conclusions:
- CPS identification often relies on non-oncologic features, emphasizing the need for broader clinical awareness.
- Genetic counseling is central to diagnosis, risk assessment, and cascade testing for pediatric CPS.
- Improving pediatrician awareness and access to genetic services is vital for early detection and prevention.
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