TY - JOUR
T1 - KCNQ1OT1 hypomethylation: 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
Y1 - 2012
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 BeckwithWiedemann syndrome. This represents a likely novel genetic predisposition in patients with adrenocortical tumors without clear phenotypic features of the BeckwithWiedemann syndrome. Pediatr Blood Cancer 2012;59:565566. (c) 2011 Wiley Periodicals, Inc
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 BeckwithWiedemann syndrome. This represents a likely novel genetic predisposition in patients with adrenocortical tumors without clear phenotypic features of the BeckwithWiedemann syndrome. Pediatr Blood Cancer 2012;59:565566. (c) 2011 Wiley Periodicals, Inc
U2 - https://doi.org/10.1002/pbc.23398
DO - https://doi.org/10.1002/pbc.23398
M3 - Article
C2 - 22610651
SN - 1545-5009
VL - 59
SP - 565
EP - 566
JO - Pediatric blood & cancer
JF - Pediatric blood & cancer
IS - 3
ER -