| Malignant melanoma and Wiedemann-Beckwith syndrome in childhood. | |
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MedLine Citation:
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PMID: 21058226 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Patients with Wiedemann-Beckwith syndrome (WBS, MIM 130650), a congenital overgrowth syndrome, have a known increased tumor risk especially for embryonic tumors. WBS belongs to the "imprinting" syndromes caused by overexpression of IGF2 and/or loss of CDKN1C on chromosome 11p15.5. A 13-year-old boy with WBS developed a spitzoid malignant melanoma (Clark level V, Breslow index 4.8 mm) on the right cheek. Genetic analyses of the patient's blood showed hypermethylation at the H19 locus on chromosome 11p. The (epi)genetic changes of the WBS locus might have played a role in the pathogenesis of melanoma development. |
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Authors:
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E Livingstone; A Caliebe; F Egberts; E Proksch; K Buiting; C Schubert; A Claviez; R Siebert; A Hauschild |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-11-05 |
Journal Detail:
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Title: Klinische Pädiatrie Volume: 222 ISSN: 1439-3824 ISO Abbreviation: Klin Padiatr Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-08 Completed Date: 2011-03-29 Revised Date: 2011-10-07 |
Medline Journal Info:
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Nlm Unique ID: 0326144 Medline TA: Klin Padiatr Country: Germany |
Other Details:
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Languages: eng Pagination: 388-90 Citation Subset: IM |
Copyright Information:
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© Georg Thieme Verlag KG Stuttgart · New York. |
Affiliation:
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Department of Dermatology, University Hospital Duisburg-Essen, Essen, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Beckwith-Wiedemann Syndrome / diagnosis*, genetics Cheek Chromosomes, Human, Pair 11 / genetics* DNA Methylation / genetics* Facial Neoplasms / diagnosis*, genetics Genetic Predisposition to Disease / genetics Genomic Imprinting / genetics* Humans Male Melanoma / diagnosis*, genetics RNA, Untranslated / genetics Skin Neoplasms / diagnosis*, genetics |
| Chemical | |
Reg. No./Substance:
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0/H19 long non-coding RNA; 0/RNA, Untranslated |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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