Renal cell carcinoma (RCC) occasionally breaches the urothelial tissue barrier and extends into the collecting system mimicking a transitional cell carcinoma. We present a case of a TFE3-rearranged renal cell carcinoma in a young patient that extended to fill the entire upper urinary tract leading to a pre-operative diagnosis of upper tract urothelial carcinoma (UTUC) based on CT imaging. A sequential algorithm of IHC/FISH assays led to the correct diagnosis of TFE3-rearranged RCC. Awareness of this potential misdiagnosis, particularly in young patients, can mitigate significant morbidity.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10597808PMC
http://dx.doi.org/10.1016/j.eucr.2023.102588DOI Listing

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