Abstract
Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient’s VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.
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Acknowledgments:
The authors thank Dr. Marc Ladanyi and Mr. Brian Hutchinson for TFE3 immunohistochemistry performed at Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
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Parast, M., Eudy, G., Gow, K. et al. A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation. Pediatr. Dev. Pathol. 7, 403–406 (2004). https://doi.org/10.1007/s10024-004-1018-8
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DOI: https://doi.org/10.1007/s10024-004-1018-8