We have studied a cohort of renal cell carcinomas (RCCs) with smooth-muscle stroma (N=6), which lacked any of following genetic aberrations: mutations in the VHL-gene-coding sequence, loss of heterozygosity of chromosome 3p, or hypermethylation of VHL. Using targeted next-generation sequencing, no intronic VHL mutations or mutations in selected genes involved in angiogenesis and genes frequently mutated in clear cell RCC were identified. Tumors were also tested for the presence of hotspot mutations in the TCEB1 gene with negative results in all cases. We conclude that there exists a group of RCCs with abundant leiomyomatous stroma, where the epithelial component is indistinguishable from conventional clear cell RCC and distinct from clear cell (tubulo-) papillary RCC and that these tumors lack aberrations related to the function of the VHL gene, mutations in genes involved in angiogenesis, and hotspot mutations in the TCEB1 gene.

Department of Pathology Institute Nacional de Cancerologia Mexico City Mexico

Department of Pathology Masaryk Memorial Cancer Institute Brno Czech Republic

Department of Pathology National University Health System Hospital Singapore Singapore

Department of Pathology University Hospital Sestre Milosrdnice Zagreb Croatia

Department of Pathology University of Sarajevo Sarajevo Bosnia and Hercegovina

Departments of Pathology

Oncology Charles University Medical Faculty and Charles University Hospital Plzen Plzen

Urology

References provided by Crossref.org

Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases

Novel, emerging and provisional renal entities: The Genitourinary Pathology Society (GUPS) update on renal neoplasia