Tubulocystic renal cell carcinoma (TC-RCC) is a rare recently described renal neoplasm characterized by gross, microscopic, and immunohistochemical differences from other renal tumor types and was recently classified as a distinct entity. However, this distinction remains controversial particularly because some genetic studies suggest a close relationship with papillary RCC (PRCC). The molecular basis of this disease remains largely unexplored. We therefore performed noncoding (nc) RNA/miRNA expression analysis and targeted next-generation sequencing mutational profiling on 13 TC-RCC cases (11 pure, two mixed TC-RCC/PRCC) and compared with other renal neoplasms. The expression profile of miRNAs and other ncRNAs in TC-RCC was distinct and validated 10 differentially expressed miRNAs by quantitative RT-PCR, including miR-155 and miR-34a, that were significantly down-regulated compared with PRCC cases (n = 22). With the use of targeted next-generation sequencing we identified mutations in 14 different genes, most frequently (>60% of TC-RCC cases) in ABL1 and PDFGRA genes. These mutations were present in <5% of clear cell RCC, PRCC, or chromophobe RCC cases (n > 600) of The Cancer Genome Atlas database. In summary, this study is by far the largest molecular study of TC-RCC cases and the first to investigate either ncRNA expression or their genomic profile. These results add molecular evidence that TC-RCC is indeed a distinct entity from PRCC and other renal neoplasms.

Department of Pathology Charles University Hospital Plzen Czech Republic

Department of Pathology Cruces University Hospital University of the Basque Country Barakaldo Bizkaia Spain; BioCruces Research Institute Barakaldo Bizkaia Spain

Department of Pathology Mexican Oncology Hospital Mexico City Mexico

Department of Pathology Riga Stradins University Riga Latvia

Molecular Oncology Group of Biodonostia Research Institute San Sebastian Spain

Molecular Oncology Group of Biodonostia Research Institute San Sebastian Spain; IKERBASQUE Basque Foundation for Science Bilbao Spain

Molecular Oncology Group of Biodonostia Research Institute San Sebastian Spain; IKERBASQUE Basque Foundation for Science Bilbao Spain; Radcliffe Department of Medicine University of Oxford Oxford United Kingdom

J Mol Diagn. 2018 Jan;20(1):28-30. doi: 10.1016/j.jmoldx.2017.10.004. PubMed

Citace poskytuje Crossref.org

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