ABSTRACT
Adult Wilms tumors (nephroblastomas) are exceedingly rare with less than 500 cases
reported in the literature. To our knowledge, ours is the first reported case of a
patient with velocardiofacial syndrome (Shprintzen syndrome) acquiring an adult Wilms
tumor. The case highlights the possible role of chromosome 22q aberrations toward
the pathogenesis of a subset of Wilms tumors.
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References
- Allele loss in Wilms tumor of chromosome arms 11q, 16q, and 22q correlates with clinicopathological parameters.Gene Chromosome Canc. 1998; 22: 287-294
- Malignancy in chromosome 22q11.2 deletion syndrome.Am J Med Genet A. 2006; 140: 906-909
- Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.Cancer Cell. 2015; 27: 298-311
Article info
Publication history
Published online: December 26, 2019
Accepted:
December 13,
2019
Received:
September 18,
2019
Identification
Copyright
© 2019 Elsevier Inc. All rights reserved.
