Matches in SemOpenAlex for { <https://semopenalex.org/work/W4320731649> ?p ?o ?g. }
- W4320731649 endingPage "3743" @default.
- W4320731649 startingPage "3743" @default.
- W4320731649 abstract "Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor with a worse prognosis than Wilms' tumor. Although recently, BCOR internal tandem duplication (ITD) has been found as a driver mutation in more than 80% of cases, a deep molecular characterization of this tumor is still lacking, as well as its correlation with the clinical course. The aim of this study was to investigate the differential molecular signature between metastatic and localized BCOR-ITD-positive CCSK at diagnosis. Whole-exome sequencing (WES) and whole-transcriptome sequencing (WTS) were performed on six localized and three metastatic BCOR-ITD-positive CCSKs, confirming that this tumor carries a low mutational burden. No significant recurrences of somatic or germline mutations other than BCOR-ITD were identified among the evaluated samples. Supervised analysis of gene expression data showed enrichment of hundreds of genes, with a significant overrepresentation of the MAPK signaling pathway in metastatic cases (p < 0.0001). Within the molecular signature of metastatic CCSK, five genes were highly and significantly over-expressed: FGF3, VEGFA, SPP1, ADM, and JUND. The role of FGF3 in the acquisition of a more aggressive phenotype was investigated in a cell model system obtained by introducing the ITD into the last exon of BCOR by Crispr/Cas9 gene editing of the HEK-293 cell line. Treatment with FGF3 of BCOR-ITD HEK-293 cell line induced a significant increase in cell migration versus both untreated and scramble cell clone. The identification of over-expressed genes in metastatic CCSKs, with a particular focus on FGF3, could offer new prognostic and therapeutic targets in more aggressive cases." @default.
- W4320731649 created "2023-02-15" @default.
- W4320731649 creator A5001103060 @default.
- W4320731649 creator A5002323020 @default.
- W4320731649 creator A5005631329 @default.
- W4320731649 creator A5009174128 @default.
- W4320731649 creator A5016794541 @default.
- W4320731649 creator A5025147533 @default.
- W4320731649 creator A5032095675 @default.
- W4320731649 creator A5035339293 @default.
- W4320731649 creator A5040210154 @default.
- W4320731649 creator A5043213284 @default.
- W4320731649 creator A5046464395 @default.
- W4320731649 creator A5058584326 @default.
- W4320731649 creator A5065055801 @default.
- W4320731649 creator A5071715614 @default.
- W4320731649 creator A5086089200 @default.
- W4320731649 creator A5087564490 @default.
- W4320731649 creator A5090712153 @default.
- W4320731649 date "2023-02-13" @default.
- W4320731649 modified "2023-10-14" @default.
- W4320731649 title "Molecular Signature of Biological Aggressiveness in Clear Cell Sarcoma of the Kidney (CCSK)" @default.
- W4320731649 cites W113897575 @default.
- W4320731649 cites W1488865872 @default.
- W4320731649 cites W1559250116 @default.
- W4320731649 cites W1592922493 @default.
- W4320731649 cites W1814420654 @default.
- W4320731649 cites W1817632132 @default.
- W4320731649 cites W1872744437 @default.
- W4320731649 cites W1940451643 @default.
- W4320731649 cites W1965378458 @default.
- W4320731649 cites W1967446368 @default.
- W4320731649 cites W1976862232 @default.
- W4320731649 cites W1980428241 @default.
- W4320731649 cites W1983639000 @default.
- W4320731649 cites W1988476050 @default.
- W4320731649 cites W1999155688 @default.
- W4320731649 cites W2003323729 @default.
- W4320731649 cites W2007553857 @default.
- W4320731649 cites W2011546689 @default.
- W4320731649 cites W2012624796 @default.
- W4320731649 cites W2013189329 @default.
- W4320731649 cites W2014941287 @default.
- W4320731649 cites W2019259000 @default.
- W4320731649 cites W2020586264 @default.
- W4320731649 cites W2021430400 @default.
- W4320731649 cites W2025203479 @default.
- W4320731649 cites W2025553576 @default.
- W4320731649 cites W2027230614 @default.
- W4320731649 cites W2028394484 @default.
- W4320731649 cites W2033321796 @default.
- W4320731649 cites W2037914397 @default.
- W4320731649 cites W2039035015 @default.
- W4320731649 cites W2054195724 @default.
- W4320731649 cites W2061663679 @default.
- W4320731649 cites W2062110041 @default.
- W4320731649 cites W2062686511 @default.
- W4320731649 cites W2069223267 @default.
- W4320731649 cites W2070489177 @default.
- W4320731649 cites W2071361463 @default.
- W4320731649 cites W2072130038 @default.
- W4320731649 cites W2081503449 @default.
- W4320731649 cites W2081855695 @default.
- W4320731649 cites W2082463327 @default.
- W4320731649 cites W2083340178 @default.
- W4320731649 cites W2084200765 @default.
- W4320731649 cites W2092469892 @default.
- W4320731649 cites W2095111355 @default.
- W4320731649 cites W2099355499 @default.
- W4320731649 cites W2103441770 @default.
- W4320731649 cites W2106471679 @default.
- W4320731649 cites W2106578986 @default.
- W4320731649 cites W2109410345 @default.
- W4320731649 cites W2111121888 @default.
- W4320731649 cites W2121087347 @default.
- W4320731649 cites W2121118894 @default.
- W4320731649 cites W2127455821 @default.
- W4320731649 cites W2139046059 @default.
- W4320731649 cites W2140729960 @default.
- W4320731649 cites W2143926802 @default.
- W4320731649 cites W2148291278 @default.
- W4320731649 cites W2148648824 @default.
- W4320731649 cites W2149137965 @default.
- W4320731649 cites W2151585073 @default.
- W4320731649 cites W2152061559 @default.
- W4320731649 cites W2153036242 @default.
- W4320731649 cites W2155288855 @default.
- W4320731649 cites W2161608625 @default.
- W4320731649 cites W2181493651 @default.
- W4320731649 cites W2202702753 @default.
- W4320731649 cites W2209758350 @default.
- W4320731649 cites W2255072631 @default.
- W4320731649 cites W2267726313 @default.
- W4320731649 cites W2275343763 @default.
- W4320731649 cites W2289399175 @default.
- W4320731649 cites W2328876531 @default.
- W4320731649 cites W2403922700 @default.
- W4320731649 cites W2409597275 @default.