Department of Neurosurgery, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Neurosurgery. 2010 Sep;67(3):811-7; discussion 817. doi: 10.1227/01.NEU.0000375513.12925.5C.
Turcot syndrome (TS) is a rare genetic disorder of DNA mismatch repair predisposing to glioblastoma (GBM) in the type 1 variant.
We report the clinicopathological and genetic features of 3 gliomas in TS type 1 patients.
Three cases were reviewed from our clinical and pathology files at Washington University with the diagnosis of TS 1 and GBM over the past 14 years. All 3 had classic features of GBM, but also demonstrated bizarre multinucleated giant cells and remarkably high mitotic indices. Sarcomatous regions were found in 2. Despite these features, the patients had prolonged survival times of 44, 55, and >29 months (ie, currently alive). Demographic and clinical courses were abstracted from retrospective chart review. Histopathology was reviewed from all cases and reticulin histochemistry was added to identify possible foci of sarcomatous differentiation.
All 3 had classic features of GBM, and Ki-67 labeling indices ranged from 18 to 45%. All 3 also showed strong nuclear p53 positivity. Two cases were negative for the isocitrate dehydrogenase 1 (IDH1) mutation, and O-Methylguanine methyltransferase promoter methylation was seen in one. Fluorescence in situ hybridization was done using 1p/1q, 19p/19q, centromere 7/epithelial growth factor receptor (EGFR), and PTEN/DMBT1 probes. Focal EGFR amplification was seen in one case, although other common alterations of either primary GBMs or gliomas with prolonged survival (1p/19q codeletion) were lacking.
We conclude that 1) the giant cell variant of GBM is overrepresented in TS; 2) gliosarcomas may also be encountered; and 3) survival is often favorable, despite histological anaplasia and exuberant proliferation.
Turcot 综合征（TS）是一种罕见的 DNA 错配修复缺陷遗传疾病，易患 1 型变异的胶质母细胞瘤（GBM）。
我们报告了过去 14 年来华盛顿大学临床和病理档案中 3 例 TS 1 型患者的胶质瘤的临床病理和遗传特征。
从我们的临床和病理档案中回顾性地分析了过去 14 年来在华盛顿大学诊断为 TS1 型和 GBM 的 3 例病例。所有 3 例均具有典型的 GBM 特征，但也表现出奇异的多核巨细胞和极高的有丝分裂指数。2 例发现肉瘤样区域。尽管有这些特征，但患者的生存时间分别为 44、55 和>29 个月（即目前仍存活）。从回顾性图表审查中提取人口统计学和临床过程。对所有病例进行组织病理学检查，并添加网状蛋白组织化学以识别可能的肉瘤样分化焦点。
所有 3 例均具有典型的 GBM 特征，Ki-67 标记指数范围为 18%至 45%。所有 3 例均表现出强烈的核 p53 阳性。2 例 IDH1 突变阴性，1 例 O-甲基鸟嘌呤甲基转移酶启动子甲基化阳性。使用 1p/1q、19p/19q、着丝粒 7/表皮生长因子受体（EGFR）和 PTEN/DMBT1 探针进行荧光原位杂交。在 1 例中观察到 EGFR 局部扩增，尽管缺乏原发性 GBM 或生存时间延长的胶质瘤的其他常见改变（1p/19q 缺失）。
我们得出以下结论：1）TS 中 GBM 的巨细胞变体过度表达；2）可能会遇到神经胶质瘤肉瘤；3）尽管组织学恶性程度高和增生旺盛，但生存通常良好。
