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Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer
Adela Escudero1,2, Cristina Ferreras3, Nuria Rodriguez-Salas3,4,5
1Institute of Medical and Molecular Genetics, La Paz University Hospital, Paseo de la Castellana 261, 28046, Madrid, Spain. adela.escudero@salud.madrid.org.
Insights
A specialized pediatric cancer unit improved the diagnosis of inherited cancer predisposition syndromes (CPS) in children. This multidisciplinary approach led to higher diagnostic rates and enhanced genetic counseling for pediatric cancer patients.
Area of Science:
- Oncology
- Genetics
- Pediatrics
Background:
- Approximately 10% of pediatric cancer patients harbor an inherited cancer predisposition syndrome (CPS).
- Early identification of genetic susceptibility is critical for accurate diagnosis and management of pediatric cancers.
- Cancer predisposition syndromes can be inherited and may present subtly in children.
Purpose of the Study:
- To present the workflow and outcomes of a multidisciplinary cancer predisposition unit for pediatric oncology patients.
- To evaluate the effectiveness of a specialized unit in diagnosing and managing pediatric cancer predisposition syndromes.
- To improve genetic counseling and diagnostic rates for children with cancer.
Main Methods:
- A multidisciplinary cancer predisposition unit was established for pediatric patients with cancer.
- Workflow and patient data were collected between July 2018 and July 2020.
- Genetic studies, including mutational analysis of peripheral blood DNA, were performed on referred patients.
Main Results:
- 49 pediatric cancer patients were treated at the unit, with 48 recommended for genetic study.
- A confirmed cancer predisposition syndrome diagnosis was made in approximately 45% of patients (n=22).
- Identified syndromes included hereditary retinoblastoma, Li-Fraumeni syndrome, and others, representing 20% of all pediatric cancers in the center.
Conclusions:
- Implementing a specialized unit for pediatric cancer patients increases the diagnostic rate of cancer predisposition syndromes.
- The specialized unit facilitates better genetic counseling for children diagnosed with cancer predisposition syndromes.
- Despite limitations, the study highlights the value of a multidisciplinary approach in pediatric cancer care.
Introduction:
Approximately 10% of pediatric patients with cancer have an inherited, sometimes masked, cancer predisposition syndrome (CPS). Identifying patients with genetic susceptibility to malignant disease is essential for their correct diagnosis and clinical management.
Materials And Methods:
Here, we present the workflow and experience of a multidisciplinary cancer predisposition unit focused on pediatric patients with cancer.
Results:
Between July 2018 and July 2020, 214 patients were diagnosed with pediatric cancer in our Hospital. Of all, 49 patients were treated at the CPS unit, 48 of whom were recommended a genetic study. Mutational analysis was performed on DNA from peripheral blood samples, with approximately 45% of the patients (n = 22) receiving a confirmed CPS diagnosis, all of whom underwent genetic counseling. These cases represent 20% of all pediatric cancers diagnosed in the same center during this period. Most of the patients were diagnosed with hereditary retinoblastoma; however, we also identified families with Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, hereditary melanoma, hereditary leiomyomatosis, and Gardner syndrome.
Conclusion:
Despite its limitations regarding the type of tumors and number of patients included, this study revealed that implementing a specialized unit focused on children with cancer results in a higher diagnostic rate and better genetic counseling for patients with pediatric cancer predisposition syndromes.
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