Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 565-566 |
| Number of pages | 2 |
| Journal | Pediatric Blood and Cancer |
| Volume | 59 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Sept 2012 |
| Externally published | Yes |
Keywords
- Adrenocortical tumors
- Beckwith-Wiedemann syndrome
- Genetics
- Pediatric oncology
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