Cancer Predisposition Syndromes in Children: Who, How, and When Should Genetic Studies Be Considered?

Area of Science:

• Pediatric Oncology
• Clinical Genetics
• Cancer Predisposition Syndromes

Background:

• Early detection of cancer predisposition syndromes (CPS) is critical for timely intervention and management.
• Optimal treatment and follow-up strategies depend on accurate diagnosis of hereditary cancer risks.
• Genetic counseling is essential for families affected by hereditary cancer syndromes.

Purpose of the Study:

• To outline an approach for early detection of CPS in a pediatric oncology setting.
• To evaluate the utility of clinical assessment and genetic testing in identifying cancer predisposition.
• To determine the frequency of pathogenic variants and variants of uncertain significance (VUS) in pediatric cancer patients.

Main Methods:

• A cohort of 50 randomly selected pediatric oncology patients underwent clinical assessment.
• Eligibility for genetic testing was determined based on clinical evaluation.
• Genetic testing was performed to identify variants in cancer predisposition genes.

Main Results:

• Out of 50 patients, 44 were eligible for genetic testing.
• Two pathogenic or likely pathogenic variants associated with CPS were identified.
• Six variants of uncertain significance (VUS) potentially linked to cancer development were found.

Conclusions:

• A systematic approach combining clinical assessment and genetic testing can aid in early CPS detection.
• Accurate family history and physical examination are crucial for identifying at-risk pediatric patients.
• Collaboration between pediatric oncologists and geneticists is key for comprehensive cancer predisposition management.