一名患有Turcot综合征患者的髓母细胞瘤和多形性胶质母细胞瘤：病例报告
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report.
作者信息
McLaughlin M R, Gollin S M, Lese C M, Albright A L
机构信息
Department of Neurological Surgery, Presbyterian University Hospital, University of Pittsburgh Medical Center, PA 15213-2582, USA.
出版信息
Surg Neurol. 1998 Mar;49(3):295-301. doi: 10.1016/s0090-3019(97)00214-0.
BACKGROUND
Turcot syndrome (TS) or the glioma-polyposis syndrome, is a rare, heritable disorder thought by some authors to be a variant of familial adenomatous polyposis (FAP). It is characterized by central nervous system (CNS) neoplasms and gastrointestinal polyposis.
METHODS
We present a case report of a patient who developed a medulloblastoma at age 5 years. Ten years later, she developed adenocarcinoma of the colon. Seven months after resection of this Dukes' C2 adenocarcinoma, she presented with a second primary CNS tumor, a glioblastoma multiforme. The patient's colonic adenocarcinoma and glioblastoma were evaluated histologically and cytogenetically.
RESULTS
Cytogenetic analysis revealed the presence of chromosomal instability in both tumors. This unusual case of two primary CNS neoplasms in a patient with TS is presented with a review of the literature.
CONCLUSIONS
The implications of the cytogenetic analysis are discussed in conjunction with the present knowledge of the molecular biology of TS.
背景
Turcot综合征（TS），即胶质瘤-息肉病综合征，是一种罕见的遗传性疾病，一些作者认为它是家族性腺瘤性息肉病（FAP）的一种变体。其特征为中枢神经系统（CNS）肿瘤和胃肠道息肉病。
方法
我们报告一例患者，该患者5岁时患髓母细胞瘤。10年后，她发生了结肠癌。在切除该Dukes' C2期腺癌7个月后，她出现了第二个原发性中枢神经系统肿瘤，即多形性胶质母细胞瘤。对患者的结肠腺癌和胶质母细胞瘤进行了组织学和细胞遗传学评估。
结果
细胞遗传学分析显示两种肿瘤均存在染色体不稳定。本文报告了这例TS患者发生两个原发性中枢神经系统肿瘤的罕见病例，并对相关文献进行了综述。
结论
结合目前对TS分子生物学的认识，讨论了细胞遗传学分析的意义。
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