Cyto-histological correlation of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma: Report of a case with review of literature

Diagn Cytopathol. 2018 Mar;46(3):267-270. doi: 10.1002/dc.23839. Epub 2017 Oct 12.

Abstract

The MiT family translocation renal cell carcinomas (RCCs) are relatively rare in comparison to the conventional RCC. The cytologic features overlap with conventional clear cell RCC and papillary RCCs, thereby making the diagnosis extremely challenging. Here, we describe a case of TFE3 translocation associated RCC in a 58-year-old patient, with emphasis on cytomorphologic features and clues toward this diagnostic entity. Correlating the cytohistologic findings and review of touch imprints revealed that presence of hyaline nodules resembling leisegang rings and psammoma bodies in cytologic smears from kidney tumors serve as an important clue in raising a suspicion for the diagnosis of MiT family translocation RCCs.

Keywords: MiT family translocation renal cell carcinomas; Xp11 translocation renal cell carcinoma; cytology; t(6;11) renal cell carcinoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology*
  • Cell Aggregation
  • Chromosomes, Human, X / genetics*
  • Cytodiagnosis*
  • Female
  • Gene Fusion*
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Middle Aged
  • Translocation, Genetic*

Substances

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