Noncoding RNA expression and targeted next-generation sequencing distinguish tubulocystic renal cell carcinoma (TC-RCC) from other renal neoplasms

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F18%3A10366628" target="_blank" >RIV/00216208:11140/18:10366628 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00669806:_____/18:10366628

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.jmoldx.2017.09.002" target="_blank" >http://dx.doi.org/10.1016/j.jmoldx.2017.09.002</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jmoldx.2017.09.002" target="_blank" >10.1016/j.jmoldx.2017.09.002</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Noncoding RNA expression and targeted next-generation sequencing distinguish tubulocystic renal cell carcinoma (TC-RCC) from other renal neoplasms

Popis výsledku v původním jazyce

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 (nZ22). With the use of targeted next-generation sequencing we identified mutations in 14 different genes, most frequently (&gt;60% of TC-RCC cases) in ABL1 and PDFGRA genes. These mutations were present in &lt;5% of clear cell RCC, PRCC, or chromophobe RCC cases (n &gt; 600) o 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.

Název v anglickém jazyce

Noncoding RNA expression and targeted next-generation sequencing distinguish tubulocystic renal cell carcinoma (TC-RCC) from other renal neoplasms

Popis výsledku anglicky

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 (nZ22). With the use of targeted next-generation sequencing we identified mutations in 14 different genes, most frequently (&gt;60% of TC-RCC cases) in ABL1 and PDFGRA genes. These mutations were present in &lt;5% of clear cell RCC, PRCC, or chromophobe RCC cases (n &gt; 600) o 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30109 - Pathology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Molecular Diagnostics

ISSN

1525-1578

e-ISSN

—

Svazek periodika

20

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

12

Strana od-do

34-45

Kód UT WoS článku

000418878400005

EID výsledku v databázi Scopus

2-s2.0-85038248453