TFE3-rearranged renal cell carcinoma with tumour thrombus in the ureter mimicking invasive transitional cell carcinoma

Arman Z Chacko; Shweta Singh; Johann Boaz; Vikram Raj Gopinathan; M P Rajadoss

doi:10.1016/j.eucr.2023.102588

TFE3-rearranged renal cell carcinoma with tumour thrombus in the ureter mimicking invasive transitional cell carcinoma

Urol Case Rep. 2023 Oct 15:51:102588. doi: 10.1016/j.eucr.2023.102588. eCollection 2023 Nov.

Authors

Arman Z Chacko¹, Shweta Singh², Johann Boaz¹, Vikram Raj Gopinathan³, M P Rajadoss¹

Affiliations

¹ Department of Urology, Christian Medical College Vellore, India.
² Department of Radiology, Christian Medical College Vellore, India.
³ Department of Pathology, Christian Medical College Vellore, India.

Abstract

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.

Keywords: Immunohistochemistry; TFE3 renal cell carcinoma; Urothelial carcinoma.

Publication types

Case Reports