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PubMed 22610651


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv7.1



Title: KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

Authors: Mark Wijnen, Marielle Alders, Christian M Zwaan, Anja Wagner, Marry M van den Heuvel-Eibrink

Journal, date & volume: Pediatr Blood Cancer, 2012 Sep , 59, 565-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22610651


Abstract
Pediatric adrenal tumors, other than neuroblastoma, are rare and can be associated with a genetic predisposition. In this report we describe two patients with an isolated and apparently sporadic adrenocortical tumor; one girl with a carcinoma, the other girl with an adenoma. In both patients genetic screening revealed hypomethylation of the KCNQ1OT1 gene, well-known for its association with the Beckwith-Wiedemann syndrome. This represents a likely novel genetic predisposition in patients with adrenocortical tumors without clear phenotypic features of the Beckwith-Wiedemann syndrome.