Recent publications

Study of rare kidney cancer subtype may lead to new therapies 

Research by Dr. Muna Talafha, pathology resident; John Ligon, UMMC medical student; Dr. Varsha Manucha, professor of pathology and section director for the Division of Cytopathology; and Dr. John Henegan, CCRI associate director of clinical research and an associate professor of hematology and oncology; has been published in the International Journal of Surgical Pathology. 

This report describes a 60‑year‑old African American man with right renal mass extending into the liver. Patient underwent radical nephrectomy which revealed a high-grade renal cell carcinoma with rhabdoid and sarcomatoid features, fibrosclerotic stroma, and a strong immune‑cell infiltrate. Immunohistochemistry confirmed that the tumor came from renal epithelial cells, based on markers like KRT7, PAX8, AMACR, and CD10. The tumor also retained SMARCB1 and FH expression, which helped rule out two other rare renal cell carcinoma subtypes that lose these proteins. 

Genomic testing revealed mutations in both BRCA2 and NF2. Although these alterations are uncommon in RCC, tumors with this combination may represent a distinct molecular subgroup.  

BRCA2 and NF2 are important tumor‑suppressor genes. BRCA2 helps repair dangerous DNA double‑strand breaks through homologous recombination, while NF2 regulates several cell‑growth pathways. Mutations in these genes are well known in many cancers, but their significance in renal cell carcinoma is still not well understood. 

Because BRCA2‑mutated cancers in other organs often respond to PARP inhibitors, this finding raises the possibility that similar targeted therapies could benefit select renal cell carcinoma patients. The study strengthens the idea that there may be an emerging subtype of renal cell carcinoma driven by DNA‑repair defects. Recognizing this group could open the door to more personalized treatment strategies and better outcomes for patients with these rare, aggressive tumors.