Malformations, genetic abnormalities, and Wilms tumor.
S Dumoucel1, M Gauthier-Villars, D Stoppa-Lyonnet
1Department of Pediatric Oncology, Institut Curie, Paris, France.
Pediatric Blood & Cancer
|August 24, 2013
Summary
Wilms tumor (WT) is often linked to malformations and genetic syndromes. Early diagnosis and genetic counseling are crucial for improved patient follow-up and outcomes in these pediatric cancer cases.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
Background:
- Wilms tumor (WT) can be associated with tumor predisposition syndromes and clinical malformations.
- These associations require further clinical and molecular genetic characterization.
- Understanding these links is vital for comprehensive patient management.
Purpose of the Study:
- To describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in WT patients.
- To propose guidelines for clinical and molecular genetic investigations in WT.
- To enhance the diagnostic and therapeutic pathways for WT.
Main Methods:
- Retrospective analysis of 295 WT patients treated between 1986 and 2009.
- Evaluation of clinical abnormalities and identified predisposition syndromes.
- Correlation of genetic findings with clinical presentation.
Main Results:
- 17.6% of WT patients exhibited malformations or predisposition syndromes.
- Common genetic syndromes included WAGR, Denys-Drash, Beckwith-Wiedeman, and Fanconi anemia.
- Genito-urinary malformations and hemihypertrophy were most frequent; earlier diagnosis in affected children.
Conclusions:
- The high frequency of malformations in WT necessitates genetic counseling and molecular testing.
- Genetic insights aid in better patient follow-up and management.
- A clinical decision tree is proposed to guide genetic explorations.
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