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Genitourinary manifestations of hereditary cancer predisposition syndromes in children
Nali Julia Gillespie1, David Van Mater2
1Duke University School of Medicine, Durham, NC, USA.
Insights
Pediatric urologists play a key role in identifying hereditary cancer syndromes presenting with genitourinary (GU) symptoms in children. Early recognition can lead to genetic testing, enhanced surveillance, and altered treatment for these hereditary cancer predisposition syndromes.
Area of Science:
- Pediatric Urology
- Genetics
- Oncology
Background:
- Hereditary cancer predisposition syndromes can manifest with genitourinary (GU) abnormalities in pediatric patients.
- GU symptoms may be the initial presentation of a broader hereditary cancer syndrome.
- Pediatric urologists are uniquely positioned to detect these early signs.
Purpose of the Study:
- To review hereditary cancer predisposition syndromes with GU manifestations relevant to pediatric urology.
- To highlight the importance of recognizing GU signs for diagnosis and management.
Main Methods:
- Literature review of hereditary cancer predisposition syndromes impacting the GU tract in children.
- Focus on conditions encountered by pediatric urologists.
Main Results:
- Certain GU manifestations can be pathognomonic for specific hereditary cancer syndromes, prompting genetic testing.
- Knowledge of an underlying syndrome influences treatment decisions for GU conditions.
- This review consolidates information on relevant syndromes for pediatric urologists.
Conclusions:
- Early identification of GU manifestations suggestive of hereditary cancer predisposition syndromes is crucial.
- Pediatric urologists are vital in the multidisciplinary approach to managing these complex cases.
- Recognition impacts diagnostic pathways, surveillance, and therapeutic strategies.
Abstract:
Several hereditary cancer predisposition syndromes are associated with genitourinary (GU) manifestations in children. The GU manifestation may be the first symptom of a more global syndrome to arise, which places the pediatric urologist in a unique position to impact the health of the child. Some GU manifestations are pathognomonic for a particular hereditary cancer predisposition syndrome, which can prompt genetic testing and enhanced surveillance for other features of the condition. In other cases, knowledge of an underlying hereditary cancer predisposition syndrome alters treatment decisions. This review focuses on hereditary cancer predisposition syndromes that impact the GU tract and are likely to be seen by a pediatric urologist.
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