Malignant melanoma and Wiedemann-Beckwith syndrome in childhood.
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.
Department of Dermatology, University Hospital Duisburg-Essen, Essen, Germany.
E
E
Livingstone
A
A
Caliebe
F
F
Egberts
E
E
Proksch
K
K
Buiting
C
C
Schubert
A
A
Claviez
R
R
Siebert
A
A
Hauschild
D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics; D002610:Cheek; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D005153:Facial Neoplasms / Q000175:diagnosis* / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics
C094335:H19 long non-coding RNA; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated