Renal cell carcinoma, MiTF/TFE3 family translocation-associated subtype

摘要

A 20-year old male presented with right flank pain and hematuria. Initial workup for nephrolithiasis by CT imaging revealed a right renal lower pole mass. Biopsy of the renal mass revealed “clusters of spindle cells and mature fat” with no malignant cells found. Subsequent MRI imaging confirmed the presence of the mass, with concern for an infiltrative process. Therefore, the patient underwent a robotic-assisted right nephrouretectomy that revealed a Micropthlamia Family of Transcription Factor (MiTF) translocation tumor involving the Xp11.2 TFE3 transcription factor, without lymph node involvement. The patient remains asymptomatic without evidence of abdominopelvic or intrathoracic metastatic disease or lymphadenopathy two years post nephrouretectomy