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Background There is strong evidence of a genetic contribution to Wilms tumor, such as  WT1  gene variation or epigenetic changes at chromosome locus 11p15. A previous genome wide association study (GWAS) of Wilms tumor identified other significant association loci including Xp22.  Case report:  A 4-year-old girl developed a Wilms tumor of the left isthmus of a horseshoe kidney. Chromosomal microarray analysis (CMA) of peripheral blood showed a 563 kb copy number gain at Xp22.11 that included  PRDX4 and ZFX .  PRDX4  has been shown to play an active role in the tumorigenesis of malignant neoplasms in various organs. Beckwith-Wiedemann methylation analysis and  WT1  sequencing were negative. Whole exome sequencing of peripheral blood revealed pathogenic variant in  PMS2  gene (c.765C &gt; A), which is consistent with Lynch syndrome.  Conclusion:  We report a case of Wilms tumor with germline Xp22.11 duplication which further supports this locus as germline susceptibility alteration for Wilms Tumor.

Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney