Recent developments in the pathology of renal tumors: morphology and molecular characteristics of select entities

Benjamin C Yan1, A Craig Mackinnon, Hikmat A Al-Ahmadie

  • 1Department of Pathology, University of Chicago, Chicago, Illinois, USA.

Abstract

Insights

This review covers molecular and genetic advances in renal cell carcinoma (RCC), including sporadic, familial, Xp11.2 translocation-associated RCC, and renal medullary carcinoma. New biomarkers and targeted therapies are emerging for RCC diagnosis and treatment.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Renal cell carcinoma (RCC) is a diverse cancer with varying features and outcomes.
  • RCC can be sporadic, familial, or linked to specific syndromes, with shared genetic underpinnings.
  • Genetic abnormalities identified in familial syndromes are also found in sporadic RCC.

Purpose of the Study:

  • To review recent molecular and genetic advancements in renal cell carcinoma.
  • Focus on sporadic, familial, Xp11.2 translocation-associated RCC, and renal medullary carcinoma.
  • Highlight progress in understanding RCC pathogenesis and treatment.

Main Methods:

  • Comprehensive literature review.
  • Inclusion of personal experience and institutional material.
  • Synthesis of current knowledge on RCC genetics and molecular biology.

Main Results:

  • Genetic abnormalities in familial RCC syndromes are relevant to sporadic forms.
  • Xp11.2 translocation-associated RCC and renal medullary carcinoma have distinct molecular profiles.
  • Advancements reveal the complexity of RCC molecular landscape.

Conclusions:

  • Molecular diagnostics are improving differential diagnosis of RCC with new biomarkers.
  • Identification of defective signaling pathways enables targeted therapy development for RCC.
  • Future therapies will focus on specific molecular defects in renal tumors.

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