title: KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
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.
authors.affiliation: Department of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: Mark
authors.initials: M
authors.lastname: Wijnen
authors.forename: Mariëlle
authors.initials: M
authors.lastname: Alders
authors.forename: Christian M
authors.initials: CM
authors.lastname: Zwaan
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
authors.forename: Marry M
authors.initials: MM
authors.lastname: van den Heuvel-Eibrink
mesh_terms: D000236:Adenoma / Q000235:genetics*; D000293:Adolescent; D000306:Adrenal Cortex Neoplasms / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D002648:Child; D019175:DNA Methylation; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics
chemical_list: C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated