Melanoma-Astrocytoma syndrome

Abstract

Characterised by families with cutaneous malignant melanoma (CMM) and nervous system tumours. Initially described in a family with malignant melanoma and/or cerebral astrocytoma in eight members over three generations. Astroctytomas and cutaneous malignant melanoma have been identified in a number of well defined syndromes such as neurofibromatosis, Turcot’s, Lynch type II cancer, LiFraumeni and tuberous sclerosis. However, astrocytomas and CMM have been reported in families where the disease pattern does not fit the defined syndromes due to the absence of additional cancer types normally associated with these syndromes and mutations in genes known to predispose to these conditions (NF1, TP53, APC, MSH2 MLH1, TSC1, TSC2). In addition to astrocytoma, melanomaastrocytoma syndrome families show other tumours such as medullablastomas, glioblastoma multiforme, ependymoma, glioma, meningioma, neuroblastomas, schwannoma and acoustic neurilemmoma. All these tumours are of neural crest, mesenchymal and/or neuroepithelium origin. These families may/may not show evidence of the dysplastic naevus syndrome (DNS) common in familial melanoma. Neoplastic risk