2012-09-01
KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
Publication
Publication
Pediatric Blood & Cancer , Volume 59 - Issue 3 p. 565- 566
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.
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| doi.org/10.1002/pbc.23398, hdl.handle.net/1765/62659 | |
| Pediatric Blood & Cancer | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Wijnen, M., Alders, M., Zwaan, M., Wagner, A., & van den Heuvel-Eibrink, 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 |
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