P17.79A MELANOMA-ASTROCYTOMA SYNDROME ASSOCIATED TO A CONSTITUTIVE MICRODUPLICATION ON 5P15.33, CONTAINING THE TERT GENE

ABSTRACT: Melanoma-astrocytoma syndrome (OMIM #155755) is characterized by association of cutaneous malignant melanoma and tumors of central nervous system, generally astrocytomas. The deletion of tumor-suppressor genes on chromosomal region 9p21 (p15/CDKN2B, p16/CDKN2A and p14/ARF) is often reported in families with hereditary predisposition to melanoma and nervous system tumors. We describe a family including a patient with history of melanoma and low grade glioma not associated with mutation on 9 chromosome. The proband is a 40 year old woman who underwent surgery for a cervical cutaneous melanoma. After 4 months, during oncological follow-up, an asymptomatic, left frontal cerebral lesion was detected and subsequently excised. Histopathology indicated a WHO grade II oligoastrocytoma, with 1p/19q

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PROVIDER: S-EPMC4185781 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature