Minimally invasive cytologic evaluation leading to the diagnosis of TFE3-rearranged renal cell carcinoma: A case report

Diagn Cytopathol. 2022 Dec;50(12):E382-E385. doi: 10.1002/dc.25042. Epub 2022 Aug 17.

Abstract

TFE3-rearranged renal cell carcinoma (RCC) has been categorized as a molecularly defined renal carcinoma in the 2022 WHO classification of tumors as it does not demonstrate a specific genotype-phenotype correlation. However, in order to arrive at the diagnosis, recognition of the broad spectrum of cytologic and histologic features that can be seen in TFE3-rearranged RCC is important for differential diagnostic consideration. Reported here is the diagnostic workup of a TFE3-rearranged RCC using very limited tissue sample. The initial evaluation was dependent on the cytomorphologic findings observed on a touch preparation made from the renal mass biopsy, directing appropriate selection of ancillary tests, and leading to a definitive diagnosis.

Keywords: TFE3-rearranged renal cell carcinoma; core biopsy; cytology; fluorescence in situ hybridization; touch preparation.

Publication types

  • Case Reports

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
  • Carcinoma, Renal Cell* / diagnosis
  • Carcinoma, Renal Cell* / genetics
  • Carcinoma, Renal Cell* / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms* / diagnosis
  • Kidney Neoplasms* / genetics
  • Kidney Neoplasms* / pathology
  • Translocation, Genetic

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • TFE3 protein, human