A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.

ABSTRACT:

Background

Association of melanoma, neural system tumors and germ line mutations at the 9p21 region in the CDKN2A, CDKN2B and CDKN2BAS genes has been reported in a small number of families worldwide and described as a discrete syndrome in melanoma families registered as a rare disease, the melanoma-astrocytoma syndrome.

Case presentation

We here studied two young patients developing melanoma after radiotherapy for astrocytoma, both reporting lack of family history for melanoma or neural system tumors at genetic counselling. Patient A is a girl treated for anaplastic astrocytoma at 10 years and for multiple melanomas on the scalp associated to dysplastic nevi two years later. Her monozygotic twin sister carried dysplastic nevi and a slow growing, untreated cerebral lesion. Di

SUBMITTER: Frigerio S 

PROVIDER: S-EPMC4036080 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature