KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
Copyright policy )KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
AbstractPediatric 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. Pediatr Blood Cancer 2012;59:565–566. © 2011 Wiley Periodicals, Inc.
- Amsterdam UMC Netherlands
- Boston Children's Hospital United States
- Erasmus University Rotterdam Netherlands
- Erasmus MC - Sophia Children’s Hospital Netherlands
- Amsterdam UMC, location AMC Netherlands
Adenoma, Adolescent, Carcinoma, EMC MM-02-54-03, DNA Methylation, Adrenal Cortex Neoplasms, Potassium Channels, Voltage-Gated, Humans, Female, Genetic Predisposition to Disease, Child, EMC MGC-02-96-01
Adenoma, Adolescent, Carcinoma, EMC MM-02-54-03, DNA Methylation, Adrenal Cortex Neoplasms, Potassium Channels, Voltage-Gated, Humans, Female, Genetic Predisposition to Disease, Child, EMC MGC-02-96-01
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