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Familial extrarenal Wilms tumor
Chris H Houben1, Joanna H Tong, Anthony W Chan
1Department of Surgery, Prince of Wales Hospital, Hong Kong. chhouben@web.de
Journal of Pediatric Surgery
|November 21, 2007
Summary
This study reports the first family with extrarenal Wilms tumor, confirmed by WT1 gene product presence. Genetic linkage studies were inconclusive, suggesting potential chance events.
Area of Science:
- Pediatric Oncology
- Genetics
- Nephrology
Background:
- Extrarenal Wilms tumor is rare.
- Familial occurrence of Wilms tumor is uncommon.
- This study investigates a unique familial case.
Purpose of the Study:
- To report the first instance of extrarenal Wilms tumor within a family.
- To analyze the genetic basis of familial extrarenal Wilms tumor.
- To investigate WT1 gene involvement.
Main Methods:
- Retrospective review of 3 siblings' medical records.
- Immunohistochemical analysis for WT1 gene product.
- Molecular genetic linkage studies for Wilms tumor genes (FWT1, WT1, FWT2).
Main Results:
- Two siblings presented with extrarenal retroperitoneal Wilms tumors.
- WT1 gene product was detected in both tumors via immunohistochemistry.
- Genetic linkage studies were inconclusive; no mutations found in WT1 coding regions.
- Possible linkage at FWT1 and FWT2 loci noted, potentially due to familial relation.
Conclusions:
- First report of familial extrarenal Wilms tumor.
- WT1 gene product is present in these familial cases.
- Genetic linkage analysis did not definitively establish a familial link, with findings possibly attributed to chance.
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