Bahuau M, Vidaud D, Kujas M, Palangié A, Assouline B, Chaignaud-Lebreton M, Prieur M, Vidaud M, Harpey J P, Lafourcade J, Caille B
Laboratoire de Génétique Moléculaire, Faculté des Sciences Pharmaceutiques et Biologiques de Paris, Université Paris V, France.
Ann Genet. 1997;40(2):78-91.
A five-generation family is here reported in which several members developed malignant melanoma, dysplastic naevi, astrocytoma in all grades, benign or malignant schwannoma, neurofibroma, or meningioma in a single instance. Significant cosegregation of skin and nervous tumours, preclusion of allelism to type 1 neurofibromatosis and phenotypic departure from known syndromes of hereditary proneness to cancer make one suggest an original familial predisposition to both malignant melanoma and central/peripheral nervous tumours.
本文报告了一个五代家族，其中数名成员患恶性黑色素瘤、发育异常痣、各级星形细胞瘤、单发的良性或恶性神经鞘瘤、神经纤维瘤或脑膜瘤。皮肤和神经肿瘤明显共同分离，排除与1型神经纤维瘤病的等位性，且表型与已知的遗传性癌症易患综合征不同，这提示存在一种原发性家族性易患恶性黑色素瘤和中枢/外周神经肿瘤的倾向。
