TY - JOUR
T1 - KCNQ1OT1 hypomethylation
T2 - A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
AU - Wijnen, Mark
AU - Alders, Mariëlle
AU - Zwaan, Christian M.
AU - Wagner, Anja
AU - van den Heuvel-Eibrink, Marry M.
PY - 2012/9
Y1 - 2012/9
N2 - 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.
AB - 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.
KW - Adrenocortical tumors
KW - Beckwith-Wiedemann syndrome
KW - Genetics
KW - Pediatric oncology
UR - http://www.scopus.com/inward/record.url?scp=84863861364&partnerID=8YFLogxK
U2 - 10.1002/pbc.23398
DO - 10.1002/pbc.23398
M3 - Article
C2 - 22610651
AN - SCOPUS:84863861364
SN - 1545-5009
VL - 59
SP - 565
EP - 566
JO - Pediatric Blood and Cancer
JF - Pediatric Blood and Cancer
IS - 3
ER -