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Microphthalmia family of transcription factors associated renal cell carcinoma

Ling Xie1,2, Yifen Zhang1, Chin-Lee Wu2

  • 1Department of Pathology, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, China.

Asian Journal of Urology
|November 27, 2019
PubMed

Insights

This review details rare kidney cancer subtypes, focusing on MiT family translocation renal cell carcinoma (tRCC) involving TFE3 and TFEB gene rearrangements. Understanding these rare renal neoplasms aids clinical management.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • The microphthalmia (MiT) transcription factor family includes TFE3, TFEB, TFEC, and MITF.
  • MiT family translocation renal cell carcinoma (tRCC), including Xp11 and t(6;11) subtypes, was newly defined in the 2016 WHO classification.
  • These RCC subtypes are characterized by specific gene rearrangements involving TFE3 or TFEB.

Purpose of the Study:

  • To review and analyze newly described MiT family-associated renal neoplasms.
  • To consolidate clinicopathological, immunohistochemical, and molecular/genetic data for these rare RCC subtypes.
  • To enhance understanding and inform clinical management strategies for these rare renal tumors.

Main Methods:

  • Literature review of available studies on MiT family-associated renal neoplasms.
  • Analysis of clinicopathological and immunohistochemical features.
  • Summary of molecular and genetic evidence, including gene fusions and amplifications.

Main Results:

  • Identification of distinct clinicopathological and immunohistochemical features dependent on fusion partners in TFE3-rearranged RCC.
  • Recognition of TFEB-amplified RCC and melanotic MiT family translocation neoplasms as unique subtypes.
  • Association of MITF with a distinct category of renal neoplasms.

Conclusions:

  • MiT family transcription factors play a crucial role in the pathogenesis of specific renal cell carcinoma subtypes.
  • Detailed characterization of these rare RCCs is essential for accurate diagnosis and treatment.
  • This review provides a comprehensive overview to support clinical decision-making for patients with MiT family-associated renal neoplasms.
Keywords:
KidneyMITFMicrophthalmiaRenal cell carcinomaTFE3TFEBTranslocation

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