Genomic alterations and diagnosis of renal cancer

Xingming Zhang1,2, Hella A Bolck1, Niels J Rupp1,3

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

Insights

Molecular profiling is revolutionizing renal cell carcinoma (RCC) classification. Understanding genomic aberrations enhances diagnostic accuracy and guides personalized treatment for kidney cancer patients.

Area of Science:

  • Uro-oncology
  • Genomics
  • Molecular Pathology

Background:

  • The 2022 World Health Organization classification now includes molecularly defined renal tumor entities.
  • This reflects the substantial impact of molecular profiling on urogenital tumor classification.

Purpose of the Study:

  • To review key molecular alterations in renal cancer.
  • To highlight the diagnostic value of genomic aberrations and their association with tumor subtypes.

Main Methods:

  • Review of current literature on molecular profiling in renal cell carcinoma.
  • Analysis of characteristic genomic aberrations, chromosomal localization, and subtype associations.

Main Results:

  • Identification of specific molecularly defined entities: SDH-deficient, FH-deficient, TFE3-rearranged, TFEB-altered, ALK-rearranged, ELOC-mutated, and renal medullary RCC (SMARCB1-deficient).
  • Emphasis on the diagnostic utility of genomic aberrations in classifying renal tumors.

Conclusions:

  • Molecular profiling significantly enhances the accuracy of renal cancer diagnosis.
  • While a full molecular classification may be premature, it is crucial for guiding personalized patient treatment strategies.