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"Papillary Adenoma-like" Renal Tumor with TFE3 Gene Rearrangement, A Potential Precursor to or Early Event in the

Khalid Algarrahi1, Evanthia Omoscharka2, Ming Zhou1

  • 1Department of Pathology & Laboratory Medicine, Tufts Medical Center, Boston, MA, USA.

International Journal of Surgical Pathology
|July 19, 2022
PubMed

Insights

Researchers identified novel "papillary adenoma-like" renal tumors with TFE3 gene alterations. These small tumors may represent an early stage in the development of TFE3 translocation renal cell carcinoma.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • MiT family translocation renal cell carcinomas (RCCs) are defined by gene fusions involving MiT family transcription factors.
  • The precursor lesions for these aggressive RCCs remain unidentified, hindering our understanding of their development.

Observation:

  • A case study of a 23-year-old male revealed multiple small, <5mm papillary renal tumors.
  • These lesions exhibited features of papillary adenomas but harbored a TFE3 gene rearrangement, confirmed by fluorescence in-situ hybridization (FISH).
  • Immunohistochemical analysis showed tumor cells were positive for PAX8, AMACR, high molecular weight cytokeratin, and keratin 7, but negative for CD10, CA9, TTF1, and cathepsin K.

Findings:

  • The small papillary tumors were morphologically and immunohistochemically diagnosed as papillary adenomas.
  • Crucially, these lesions demonstrated TFE3 gene rearrangement, a hallmark of MiT family translocation RCCs.

Implications:

  • These "papillary adenoma-like" tumors with TFE3 rearrangement are proposed as potential precursors or early events in the pathogenesis of TFE3 translocation RCC.
  • Understanding these precursor lesions can offer insights into RCC development and aid in the diagnosis and management of translocation RCCs.
Keywords:
MiT family transcription factorTFE3papillary adenomaprecursortranslocation renal cell carcinoma

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