KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

Mark Wijnen; Mariëlle Alders; Christian M. Zwaan; Anja Wagner; Marry M. van den Heuvel-Eibrink

doi:10.1002/pbc.23398

KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

Mark Wijnen, Mariëlle Alders, Christian M. Zwaan, Anja Wagner, Marry M. van den Heuvel-Eibrink

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

15 Citaten (Scopus)

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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.

Originele taal-2	Engels
Pagina's (van-tot)	565-566
Aantal pagina's	2
Tijdschrift	Pediatric Blood and Cancer
Volume	59
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1002/pbc.23398
Status	Gepubliceerd - sep. 2012
Extern gepubliceerd	Ja

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title = "KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?",

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.",

keywords = "Adrenocortical tumors, Beckwith-Wiedemann syndrome, Genetics, Pediatric oncology",

author = "Mark Wijnen and Mari{\"e}lle Alders and Zwaan, \{Christian M.\} and Anja Wagner and \{van den Heuvel-Eibrink\}, \{Marry M.\}",

year = "2012",

month = sep,

doi = "10.1002/pbc.23398",

language = "English",

volume = "59",

pages = "565--566",

journal = "Pediatric Blood and Cancer",

issn = "1545-5009",

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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 - https://www.scopus.com/pages/publications/84863861364

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 -

KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

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