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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

2004; SAGE Publishing; Volume: 7; Issue: 4 Linguagem: Inglês

10.1007/s10024-004-1018-8

1615-5742

Mana M. Parast, Grant Eudy, Kenneth W. Gow, Mahul B. Amin, Bahig M. Shehata,

Cancer Genomics and Diagnostics

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.