Leblanc R
Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Quebec, Canada.
Can J Neurol Sci. 2000 Nov;27(4):341-6. doi: 10.1017/s0317167100001128.
Familial adenomatous polyposis (FAP) is associated with malignant tumors of the central nervous system, predominantly medulloblastomas and glioblastoma multiforme (Turcot's syndrome) and with craniofacial osteomas (Gardner's syndrome). This report details the occurrence of benign, intracranial tumors in two related individuals with Gardner's syndrome, an association not previously described.
A 57-year-old woman (the propositus), her sister, two of her nieces and one of her grandnephews were previously diagnosed with Gardner's syndrome. The propositus came to neurosurgical attention because of vertigo associated with what proved to be an epidermoid cyst of the cerebellopontine angle. Her unaffected children and her relatives with Gardner's syndrome were examined and underwent computed tomography or magnetic resonance imaging.
A 39-year-old woman with Gardner's syndrome, the niece of the propositus, was found to harbor an asymptomatic left frontal meningioma.
Familial adenomatous polyposis, Gardner's syndrome, and that variant of Turcot's syndrome in which medulloblastoma predominate, are associated with a mutation of the adenomatous polyposis coli gene. The demonstration that patients with Gardner's syndrome can also have benign, nonneuroglial, intracranial tumors adds to the previously known extracolonic lesions associated with FAP. The molecular characterization of our patients should reveal if benign intracranial tumors represent a pleiotropic manifestation of the adenomatous polyposis coli gene mutation or if other genes are implicated.
家族性腺瘤性息肉病（FAP）与中枢神经系统恶性肿瘤相关，主要是髓母细胞瘤和多形性胶质母细胞瘤（Turcot综合征），还与颅面骨瘤（Gardner综合征）有关。本报告详细描述了两名患有Gardner综合征的相关个体中良性颅内肿瘤的发生情况，这一关联此前未被描述过。
一名57岁女性（先证者）、她的姐姐、她的两个侄女和一个侄孙此前被诊断患有Gardner综合征。先证者因眩晕前来神经外科就诊，检查发现是桥小脑角表皮样囊肿。对她未患病的子女以及患有Gardner综合征的亲属进行了检查，并进行了计算机断层扫描或磁共振成像。
先证者的侄女，一名39岁患有Gardner综合征的女性，被发现患有无症状的左侧额叶脑膜瘤。
家族性腺瘤性息肉病、Gardner综合征以及以髓母细胞瘤为主的Turcot综合征变体，都与腺瘤性息肉病 coli 基因突变有关。Gardner综合征患者也可患有良性、非神经胶质颅内肿瘤，这一发现增加了此前已知的与FAP相关的结肠外病变。对我们患者的分子特征分析应能揭示良性颅内肿瘤是否代表腺瘤性息肉病 coli 基因突变的多效性表现，或者是否涉及其他基因。
