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.

Adrenocortical tumors, Beckwith-Wiedemann syndrome, Genetics, Pediatric oncology
dx.doi.org/10.1002/pbc.23398, hdl.handle.net/1765/62659
Pediatric Blood & Cancer
Erasmus MC: University Medical Center Rotterdam

Wijnen, M, Alders, M, Zwaan, C.M, Wagner, A, & van den Heuvel-Eibrink, M.M. (2012). KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?. Pediatric Blood & Cancer, 59(3), 565–566. doi:10.1002/pbc.23398