Histological and molecular characterization of TFEB-rearranged renal cell carcinomas

Nicolas Wyvekens1, Markus Rechsteiner1, Christine Fritz1

  • 1Department of Pathology and Molecular Pathology, University Hospital and University Zurich, Schmelzbergstrasse 12, 8091, Zurich, Switzerland.

Insights

Microphthalmia transcription factor (MiT) family translocation renal cell carcinomas, including TFEB-translocated and TFEB-amplified types, are distinct entities. Differentiating these rare kidney cancers is crucial due to potential differences in aggressive behavior.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • The 2016 WHO Classification identifies MiT family translocation carcinomas in renal cell carcinoma (RCC).
  • TFE3 and TFEB are MiT family members implicated in RCC development through chromosomal rearrangements.
  • TFEB translocation RCC (t(6;11)) is rare, and TFEB amplification in RCC has recently been identified.

Purpose of the Study:

  • To present distinct histological, immunohistochemical, and molecular characteristics of TFEB-translocated and TFEB-amplified RCC.
  • To review the literature on TFEB-rearranged RCCs, focusing on morphology, immunophenotype, genetics, and clinical outcomes.
  • To emphasize differential diagnoses and diagnostic approaches for TFEB-altered RCCs.

Main Methods:

  • Case presentation of TFEB-translocated and TFEB-amplified renal cell carcinomas.
  • Histological and immunohistochemical analysis.
  • Molecular characterization.
  • Literature review of TFEB-rearranged RCCs.

Main Results:

  • TFEB-translocated and TFEB-amplified RCCs exhibit distinct histological, immunohistochemical, and molecular profiles.
  • TFEB-amplified RCC may show more aggressive behavior compared to TFEB-translocated RCC.
  • Literature review provides comprehensive data on TFEB-rearranged RCCs.

Conclusions:

  • Accurate distinction between TFEB-translocated and TFEB-amplified RCC is essential for appropriate patient management.
  • Understanding the distinct features of these rare RCC subtypes aids in diagnosis and prognosis.
  • Further research into TFEB-altered RCCs is warranted to optimize treatment strategies.

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