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DOI: 10.1055/s-0030-1267152
© Georg Thieme Verlag KG Stuttgart · New York
Malignant Melanoma and Wiedemann-Beckwith Syndrome in Childhood
Malignes Melanom und Wiedemann-Beckwith-Syndrom im KindesalterPublication History
Publication Date:
05 November 2010 (online)
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Abstract
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.
Zusammenfassung
Patienten mit Wiedemann-Beckwith-Syndrom (WBS, MIM 130650), einem kongenitalen Hochwuchssyndrom, weisen ein erhöhtes Tumorrisiko speziell für embryonale Tumoren auf. Das WBS gehört zu den sog. „Imprinting”-Syndromen, die durch eine Überexpression von IGF2 und/oder Expressionsverlust von CDKN1C auf Chromosom 11p15.5 charakterisiert sind. Genetische Analysen aus dem Blut eines 13-jährigen Jungen mit WBS und spitzoidem malignem Melanom (Clark Level V, Breslow Index 4,8 mm) zeigten eine Hypermethylierung des H19 Lokus auf Chromosom 11p; dies könnte zur Melanomentstehung beigetragen haben.
Key words
malignant melanoma - Wiedemann-Beckwith syndrome - genomic imprinting - tumor predisposition
Schlüsselwörter
malignes Melanom - Wiedemann-Beckwith-Syndrom - genomisches Imprinting - Tumorprädisposition
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Correspondence
Prof. Dr. Axel Hausschild
Klinik für Dermatologie
Venerologie und Allergologie
Universitätsklinikum
Schleswig-Holstein
Campus Kiel
Schittenhelmstraße 7
24105 Kiel
Phone: +49/431/597 1852
Fax: +49/431/597 1853
Email: ahauschild@dermatology.uni-kiel.de