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

Mark Wijnen, Mariëlle Alders, Christian M Zwaan, Anja Wagner, Marry M van den Heuvel-Eibrink

Pediatric blood & cancer 2012 Sep

filter terms:

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.

Citation

Mark Wijnen, Mariëlle Alders, Christian M Zwaan, Anja Wagner, Marry M van den Heuvel-Eibrink. KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors? Pediatric blood & cancer. 2012 Sep;59(3):565-6