Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported ... Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (606236) on chromosome 17q25 and PRCC (179755) on 1q21, and more rarely, NONO (300084) on Xq13, SFPQ (605199) on 1p34, CLTC (118955) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010). For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (144700).
Perot et al. (2003) reported 5 cases of juvenile renal cell carcinoma with translocations involving Xp11.2. Tumor tissue from a 12-year-old boy and a 14-year-old girl both had a t(X;1)(p11.2;q21) translocation, tumor tissue from a 9-year-old boy and ... Perot et al. (2003) reported 5 cases of juvenile renal cell carcinoma with translocations involving Xp11.2. Tumor tissue from a 12-year-old boy and a 14-year-old girl both had a t(X;1)(p11.2;q21) translocation, tumor tissue from a 9-year-old boy and a 31-year-old woman both had a t(X;1)(p11.2;p34) translocation, and tumor tissue from a 15-year-old boy had a t(X;17)(p11.2;q25) translocation. Histologic studies showed that 2 were likely papillary RCC, with clear or slightly eosinophilic cells, and 2 were a clear cell RCC, whereas 1 showed a mixture of papillary and clear cell RCC architecture. Perot et al. (2003) concluded that RCC with translocations involving Xp11.2 forms a specific entity with a young age of occurrence.