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PMID:25670082
| Citation |
Walz, AL, Ooms, A, Gadd, S, Gerhard, DS, Smith, MA, Guidry Auvil, JM, Meerzaman, D, Chen, QR, Hsu, CH, Yan, C, Nguyen, C, Hu, Y, Bowlby, R, Brooks, D, Ma, Y, Mungall, AJ, Moore, RA, Schein, J, Marra, MA, Huff, V, Dome, JS, Chi, YY, Mullighan, CG, Ma, J, Wheeler, DA, Hampton, OA, Jafari, N, Ross, N, Gastier-Foster, JM and Perlman, EJ (2015) Recurrent DGCR8, DROSHA, and SIX Homeodomain Mutations in Favorable Histology Wilms Tumors. Cancer Cell 27:286-97 |
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| Abstract |
We report the most common single-nucleotide substitution/deletion mutations in favorable histology Wilms tumors (FHWTs) to occur within SIX1/2 (7% of 534 tumors) and microRNA processing genes (miRNAPGs) DGCR8 and DROSHA (15% of 534 tumors). Comprehensive analysis of 77 FHWTs indicates that tumors with SIX1/2 and/or miRNAPG mutations show a pre-induction metanephric mesenchyme gene expression pattern and are significantly associated with both perilobar nephrogenic rests and 11p15 imprinting aberrations. Significantly decreased expression of mature Let-7a and the miR-200 family (responsible for mesenchymal-to-epithelial transition) in miRNAPG mutant tumors is associated with an undifferentiated blastemal histology. The combination of SIX and miRNAPG mutations in the same tumor is associated with evidence of RAS activation and a higher rate of relapse and death. |
| Links |
PubMed Online version:10.1016/j.ccell.2015.01.003 |
| Keywords |
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| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005737: cytoplasm |
ECO:0000314: |
C |
Figure 1. Comprehensive analysis of 77 FHWTs indicates that tumors with SIX1/2 and/or miRNAPG mutations show a pre-induction metanephric mesenchyme gene expression pattern and are significantly associated with both perilobar nephrogenic rests and 11p15 imprinting aberrations. Figure 2. The combination of SIX and miRNAPG mutations in the same tumor is associated with evidence of RAS activation and a higher rate of relapse and death. |
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