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Medline ® Abstract for Reference 93

of 'Inherited susceptibility to melanoma'

Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma.
Berg P, Wennberg AM, Tuominen R, Sander B, Rozell BL, Platz A, Hansson J
Melanoma Res. 2004;14(4):251.
Early-onset melanoma under the age of 20 years is still a rare disease but has an increasing incidence. The aim of this study was to determine whether CDKN2A germline mutations are present in patients diagnosed with childhood/adolescent melanoma. From the Swedish Cancer Register we identified 60 patients with a diagnosis of cutaneous malignant melanoma before the age of 20 years. A medical history including information on self-reported melanoma heredity was obtained, a physical examination was performed by a dermatologist, and the histopathology slides were reviewed. A blood test was obtained for analysis of germline CDKN2A exon 1 and exon 2 mutations by DNA sequencing. We found only one germline CDKN2A mutation with functional significance, which was an exon 1 missense mutation resulting in a proline-to-leucine substitution in codon 48. This mutation was seen in a patient belonging to a previously reported kindred with hereditary melanoma where this particular germline CDKN2A mutation had been identified. Thus, in the large majority of cutaneous melanoma in childhood/adolescence, any underlying genetic alterations have yet to be identified.
Department of Dermatology and Venereology, Radiumhemmet, Karolinska University Hospital Solna, Stockholm, Sweden. peter.berg@ks.se