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Wilms tumor in a patient with 22q11.2 microdeletion
Author(s) -
Finch Paul T.,
Pivnick Eniko K.,
Furman Wayne,
Odom Christine C.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33957
Subject(s) - wilms' tumor , microdeletion syndrome , medicine , deletion syndrome , phenotype , vigilance (psychology) , gene deletion , pathology , genetics , biology , gene , mutant , neuroscience
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. © 2011 Wiley‐Liss, Inc.