Back to Search
Start Over
Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms.
- Source :
-
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2018 Jan; Vol. 20 (1), pp. 34-45. Date of Electronic Publication: 2017 Oct 19. - Publication Year :
- 2018
-
Abstract
- 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.<br /> (Copyright © 2018 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Carcinoma, Renal Cell pathology
Diagnosis, Differential
Gene Expression Profiling
Humans
Kidney Neoplasms pathology
MicroRNAs genetics
MicroRNAs metabolism
Mutation genetics
RNA, Untranslated metabolism
Reproducibility of Results
Carcinoma, Renal Cell diagnosis
Carcinoma, Renal Cell genetics
Gene Expression Regulation, Neoplastic
High-Throughput Nucleotide Sequencing methods
Kidney Neoplasms diagnosis
Kidney Neoplasms genetics
RNA, Untranslated genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1943-7811
- Volume :
- 20
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- The Journal of molecular diagnostics : JMD
- Publication Type :
- Academic Journal
- Accession number :
- 29056573
- Full Text :
- https://doi.org/10.1016/j.jmoldx.2017.09.002