Adult Xpli Translocation Associated Renal Cell Carcinoma: Time to Recognize

摘要

First recognized as a distinct entity by the World Health Organization in 2004, Xp11 translocation renal cell carcinomas (TRCCs) are a subtype of renal malignancy characterized by translocafions involving the splice site Xp11.2. de Jong et al and Tomlinson et al3 first described Xpll translocation as a previously unknown finding in the karyotype of 2 atypical renal masses presenting in infant males. A subsequent series of studies using TFE3 immunoassays have shown that Xpll TRCCs constitute <=40% of pediatric renal cell carcinoma (RCC) cases. Many of the children in these studies had received chemotherapy for previous unrelated malignancies with agents known for their ability to ligate DNA. Argani et al speculated that early exposure to DNA damaging agents, such as DNA topoisomerase II inhibitors or cyclophosphamide, could potentially serve as a precipitating factor in developing Xp11 TRCC.