Clinicopathologic Features of Translocation Renal Cell Carcinoma

Translocation renal cell carcinoma (RCC) is a rare subtype of RCC associated with genetic rearrangements on chromosome Xp11.2. Because few studies on translocation RCC have been reported, we sought to characterize RCC more fully. The medical records of 14 patients treated at our institution were carefully reviewed. Translocation RCC is a rare and potentially aggressive subtype of kidney cancer and a high index of suspicion for this disease is needed, especially in children and young adults. Translocation renal cell carcinomas (TFE3 RCC) are associated with variable genetic rearrangements of the TFE3 gene on chromosome Xp11.2. Translocation tumors represent 1% to 5% of all cases of RCC, with the greatest frequency among children and young adults. We sought to characterize the clinicopathologic features of translocation RCC at a Middle Eastern institution. The clinical and pathologic data from a single institution were retrospectively reviewed. A total of 14 patients with translocation RCC had been diagnosed from 2005 to 2014. The outcome measures included patient characteristics, clinical manifestations, pathologic features, treatment outcomes, cancer-specific survival, and progression-free survival. The mean age at diagnosis was 35 years. Of the 14 patients, 5 were female. Translocation RCC was an incidental diagnosis for all but 2 of the 14 patients. The mean tumor size was 9 cm; 1 patient had bilateral tumors, and 3 presented with positive lymph nodes. Three patients underwent partial nephrectomy. Three patients had developed metastasis at 4 months, 5 months, and 3 years after diagnosis. One patent had died 4 months after surgery and one had died 21 months after surgery (both of metastases). The disease-free survival rate was 71% at a mean follow-up of 31 months. Translocation RCC is a rare and potentially aggressive subtype of kidney cancer. An overall survival of > 3 years has been noted, unless metastasis is present at diagnosis.