Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney. (4th July 2022)

• Record Type: Journal Article
• Authors: Zhou, Hui-fang; Amarillo, Ina E.; Snyder, Stacy; Granadillo, Jorge L.; O'Conor, Christopher J.; Dillon, Patrick; Wilson, David; Huang, Frederick S.; Dehner, Louis P.; He, Mai
• Is Part Of: Fetal and pediatric pathology. Volume 41:Number 4(2022)
• Page Start: 682
• Page End: 688
• Publication Date: 2022-07-04
• Subjects: Wilms tumor -- horseshoe kidney -- Xp22.11 -- PRDX4 gene -- ZFX gene; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2021.1921892
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: 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 > 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.