Melanoma-astrocytoma syndrome is a rare autosomal dominant tumor predisposition syndrome characterized by association of cutaneous malignant melanoma and tumors of central nervous system, generally astrocytomas. This syndrome is caused by inactivating germline alteration of the CDKN2A tumor suppressor gene.
Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA
タイトル
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies.
