[Major and minor congenital anomalies in children with Wilms' tumor]
Insights
Wilms tumor, a common childhood cancer, frequently co-occurs with congenital anomalies. This study found minor anomalies in all affected children, highlighting their significance in pediatric cancer research.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
Context:
- Wilms tumor is a significant pediatric malignancy.
- Approximately 40% of Wilms tumor cases have a hereditary origin.
- Congenital anomalies, especially of the kidney and urogenital tract, are frequently associated with Wilms tumor.
Purpose:
- To prospectively investigate the prevalence and spectrum of major and minor congenital anomalies in children diagnosed with Wilms tumor.
- To correlate cytogenetic findings with the presence of congenital anomalies in Wilms tumor patients.
Summary:
- A prospective study examined 24 children with Wilms tumor between 1972 and 1987.
- All children exhibited 2-3 minor congenital anomalies. Specific major anomalies included aniridia, bilateral cataract, cryptorchidism, mental retardation, small stature, and cystic kidney.
- Cytogenetic analysis revealed an 11p deletion in one child with aniridia and Wilms tumor.
Impact:
- This research underscores the high incidence of congenital anomalies in pediatric Wilms tumor cases.
- It suggests a potential link between specific genetic abnormalities (like 11p deletion) and the development of Wilms tumor with associated anomalies.
- Findings emphasize the importance of thorough anomaly screening in children with Wilms tumor for comprehensive patient management and genetic counseling.
Abstract:
Wilms's tumour is a paediatric tumour of hereditary origin in 40% of cases. In children with Wilms's tumour associated congenital anomalies are frequent, particularly congenital anomalies of the kidney and urogenital tract. Over the period from 1972 to 1987 the authors carried out a prospective study and systematically investigated congenital major and minor anomalies in 24 children with Wilms's tumour. They revealed the presence of aniridia, bilateral cataract and cryptorchidism in 1/24 children, mental retardation, small stigated congenital major and minor anomalies in 40 chidism in 1/40 children, mental retardation, small stature and a cystic kidney in 1/40, mental retardation in 3/40. A detailed investigation of minor anomalies confirmed the presence of 2 to 3 anomalies in all observed children. Cytogenetic investigation was performed in all children. Only in a child with aniridia Wilms's tumour a cytogenetic anomaly, 11p deletion, was found.
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