| Experiment ID | EXP00293 |
| Reference | Title: Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complexunderlie high-risk blastemal type Wilms tumors. Author: Wegert J, Ishaque N, Vardapour R, Geörg C, Gu Z, Bieg M,Ziegler B, Bausenwein S, Nourkami N, Ludwig N, Keller A, GrimmC, Kneitz S, Williams RD, Chagtai T, Pritchard-Jones K, van Sluis P, Volckmann R, Koster J, Versteeg R, Acha T, O'Sullivan MJ, Bode PK, Niggli F, Tytgat GA, van Tinteren H, van denHeuvel-Eibrink MM, Meese E, Vokuhl C, Leuschner I, Graf N, EilsR, Pfister SM, Kool M, Gessler M. Journal: Cancer Cell. 2015 Feb 9;27(2):298-311. doi: 10.1016/j.ccell.2015.01.002. Abstract: Blastemal histology in chemotherapy-treated pediatric Wilms tumors(nephroblastoma) is associated with adverse prognosis. To uncover the underlying tumor biology and find therapeutic leads for this subgroup, we analyzed 58blastemal type Wilms tumors by exome and transcriptome sequencing and validatedour findings in a large replication cohort. Recurrent mutations included ahotspot mutation (Q177R) in the homeo-domain of SIX1 and SIX2 in tumors with highproliferative potential (18.1% of blastemal cases); mutations in the DROSHA/DGCR8microprocessor genes (18.2% of blastemal cases); mutations in DICER1 and DIS3L2; and alterations in IGF2, MYCN, and TP53, the latter being strongly associatedwith dismal outcome. DROSHA and DGCR8 mutations strongly altered miRNA expressionpatterns in tumors, which was functionally validated in cell lines expressingmutant DROSHA. PMID: 25670083 |
| Expressiion Profile | Description: miRNA expression profiles in Wilms tumor subtypes Organism: Homo sapiens GEO ID: GSE57370 Platform: GPL16770 Number of samples: 66 |
| Design and Sample | Cancer Type: kidney cancer Cancer SubType: Wilms tumor Cell Line: N/D Experimental Design: cancer vs normal Case Sample: Wilms tumor Control Sample: normal kidney Num of Case: 62 Num of Control: 4 Quantification Software: Limma Num of miRNAs: 1205 |
| Identification | Num of Up: 5 Num of Down: 51 |