Elsevier

Urology

Volume 76, Issue 1, July 2010, Pages 149-152
Urology

Neoplasm
Single-Nucleotide Polymorphism in WT1 Gene in a Hyperplastic Intralobar Nephrogenic Rest With Botryoid Protrusion

https://doi.org/10.1016/j.urology.2009.09.012Get rights and content

Nephrogenic rests are nodular collections of undifferentiated renal blastema cells in the postnatal kidney that are recognized as putative precursor lesions of Wilms tumor. In this study, we report the case of a 3-year-old boy who was diagnosed with a hyperplastic intralobar nephrogenic rest extending through the renal pelvis and ureter. After radical nephrectomy, adjuvant chemotherapy was performed as done in stage II Wilms tumor. We also investigated the mutation of the WT1 gene and identified a related single-nucleotide polymorphism (rs16754). We consider that not only various genetic mutations but also single-nucleotide polymorphisms or other epigenetic factors might be involved in the development of Wilms tumor.

Section snippets

Case Report

A 3-year-old boy presented with gross hematuria to the pediatric outpatient clinic in our hospital. He had no abdominal pain or painful micturition. Physical examination revealed a left abdominal mass. No ophthalmic or genitourinary abnormality or psychomotor retardation was observed. Blood and chromosomal analysis showed no abnormalities except for mild anemia. Abdominal ultrasonography revealed a 7-cm mass of mixed echogenicity occupying the left renal pelvis. Computed tomography and magnetic

Comment

We encountered an uncommon case of a hyperplastic intralobar NR with botryoid protrusion and could detect the SNP rs16754 of the WT1 gene in the tumor tissue. Microscopically, NRs are often observed as islet clusters of embryonal cells in the developing kidney; moreover, they are classified as perilobar or intralobar on the basis of their position within the renal lobe. Morphologic features that reflect growth or regressive changes further characterize both perilobar and intralobar NRs, and

Conclusions

We report a rare case of hyperplastic NR extending through the renal pelvis and ureter. A part of the tumor was not distinguishable from the histology of WT, and an SNP (rs16754) in the WT1 gene was recognized. NRs are considered as putative precursor lesions of WT, and various genetic mutations might be involved in their development to WT. Further investigations are needed to clarify the relationship between specific SNPs and tumorigenesis.

Acknowledgment

The 242nd JUA Tokai Divisional Meeting Best Presentation Award was given for the summary of this case report.

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