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

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

14 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)565-566
Aantal pagina's2
TijdschriftPediatric Blood and Cancer
Volume59
Nummer van het tijdschrift3
DOI's
StatusGepubliceerd - sep. 2012
Extern gepubliceerdJa

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