A higher occurrence of 1q gain and MYCN gain and a lack of difference in the distribution of variations among survivors and those with a relapse suggest a different molecular profile of Wilms tumor in Indian children.
Adjusted odds ratios (AORs) and 95% confidence intervals (CIs) were calculated to evaluate the association between MYCN gene polymorphisms and Wilms tumor susceptibility.
By selecting focal regions commonly involved in chromosomal anomalies, we identified genes with a possible role in WT development, based on the prior knowledge of their biological relevance, including <i>MYCN, DIS3L2, MIR562</i>, <i>HACE1</i>, <i>GLI3</i>, <i>CDKN2A</i> and <i>CDKN2B</i>, <i>PALB2</i>, and <i>CHEK2</i>.
Reduced RA pathway activity and MYCN overexpression were found in high risk tumors as opposed to tumors with low/intermediate risk, suggesting a beneficial impact of RA especially on advanced WT.
Although the WT1 gene, located at 11p13, has been proven to be implicated in the development of Wilms tumor, other genes such as MYCN are also involved.
DNA, extracted from tumours arising in 29 paediatric patients [14 neuroblastoma, 9 Wilms tumour (nephroblastoma), 6 miscellaneous] was investigated for evidence of N-myc amplification, using pNb-1, a recombinant plasmid containing a 1.0 Kb fragment homologous to the 5' end of the human N-myc gene.
Similarly, the human N-myc gene was transcribed at an equivalent rate in HeLa cells, which do not accumulate this RNA in the cytoplasm, and cell lines G401 (a Wilms tumor-derived cell line) and SKNMc (established from a primitive neuroepithelioma), which do express N-myc RNA.