Biomaterial Database

Wilms tumor in a patient with 22q11.2 microdeletion. 2011

Paul T Finch, and Eniko K Pivnick, and Wayne Furman, and Christine C Odom

UT Pediatric Residency Program, UTHSC, Memphis, Tennessee, USA. pfinch1@uthsc.edu

22q11.2 deletion syndrome is the most common microdeletion syndrome. Wilms tumor is one of the most common solid tumors in childhood yet 22q11.2 deletion and Wilms tumor only once have been reported in the same patient. Here we describe a young patient with subtle clinical findings suggestive of 22q11.2 at the time of diagnosis who subsequently developed Wilms tumor. We assert the importance of a low threshold for screening for 22q11.2 deletion and the associated phenotypes and maintaining vigilance in screening for common primary malignancies in patients with known 22q11.2 deletion.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009396	Wilms Tumor	A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.	Bilateral Wilms Tumor,Nephroblastoma,Wilms Tumor 1,Wilms' Tumor,Nephroblastomas,Tumor, Bilateral Wilms,Tumor, Wilms,Tumor, Wilms',Wilm Tumor,Wilm's Tumor,Wilms Tumor, Bilateral
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man