Congenital abnormalities and clinical features associated with Wilms' tumour: a comprehensive study from a centre
1Department of Paediatric Oncology, Birmingham Children's Hospital, B4 6NH, UK.
Insights
This study on Wilms' tumour (WT) found a higher incidence of congenital abnormalities than expected. Comprehensive patient evaluations are crucial for identifying potential genetic predispositions and associated conditions.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Cancer Epidemiology
Background:
- Wilms' tumour (WT) is a common pediatric kidney cancer.
- Previous studies have indicated a link between WT and certain congenital anomalies.
- The full spectrum of clinical abnormalities associated with WT requires further elucidation.
Purpose of the Study:
- To investigate the prevalence of congenital abnormalities in a cohort of children treated for Wilms' tumour.
- To identify novel associations between WT and specific genetic syndromes or developmental disorders.
- To emphasize the importance of thorough clinical examination in WT patients.
Main Methods:
- Retrospective review of case notes for 90 children with WT.
- Direct clinical examination of 66 children with WT.
- Comparative analysis of findings between examined and case note review groups.
Main Results:
- Congenital abnormalities were identified in 45% of the examined cohort and 19% of the case note review group, yielding an overall incidence of 30%.
- Novel associations were observed, including Marshall Smith syndrome and developmental delay in multiple WT cases from consanguineous families, with one sibling also developing leukemia.
- A higher than anticipated rate of clinical abnormalities was detected through careful examination of unselected patients.
Conclusions:
- A significant proportion of children with Wilms' tumour present with congenital abnormalities, underscoring the need for comprehensive genetic and developmental assessments.
- The study highlights potential rare DNA repair or cancer predisposition disorders in families with multiple affected individuals, warranting further investigation.
- Thorough clinical evaluation and detailed history taking are essential for uncovering potentially overlooked abnormalities in pediatric cancer patients.
Abstract:
Altogether 156 children treated for Wilms' tumour (WT) between 1970 and 1998 were studied. Sixty-six children, selected only by their attendance at clinic, were carefully examined and the findings compared to those from a case note review of 90 children. Congenital abnormalities were present in 45% of the examined cohort, in 19% of the case notes review group and in 30% overall. Novel findings included the association of WT with Marshall Smith syndrome, developmental delay in 3 of 4 cases of WT (one bilateral) and 1 sibling from consanguineous Pakistani families and another sibling also had leukaemia. The possibility of rare DNA repair or cancer predisposing disorders among these 4 families requires further study. Careful examination and history taking of an unselected patient cohort revealed a higher than expected incidence of clinical abnormalities which may be overlooked if not specifically sought.
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