ATR and BRCA2 Simultaneous Mutation in a ccRCC With Sarcomatoid Differentiation and Extensive Metastases: A Case

Jing Yang1, Junyun Wang2, Yunshi Liang1

  • 1Department of pathology, Guangzhou first people's hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, China.

Urology
|May 7, 2021
PubMed

Insights

This study reports a rare clear cell renal cell carcinoma (ccRCC) with simultaneous ATR and BRCA2 mutations. These genetic alterations may drive aggressive tumor behavior and metastasis in ccRCC patients.

Area of Science:

  • Oncology
  • Genetics
  • Genitourinary Pathology

Background:

  • Clear cell renal cell carcinoma (ccRCC) exhibits significant genomic heterogeneity across subtypes.
  • Canonical DNA damage response (DDR) gene mutations (e.g., ATR, BRCA1/2) are infrequently reported in ccRCC.

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