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一名髓母细胞瘤患者发生辐射诱发的胶质母细胞瘤:一份具有分子特征的病例报告

Radiation-induced glioblastoma in a medulloblastoma patient: a case report with molecular features.

作者信息

Gessi Marco, Maderna Emanuela, Guzzetti Sara, Cefalo Graziella, Massimino Maura, Solero Carlo L, Finocchiaro Gaetano, Pollo Bianca

机构信息

Division of Neuropathology, Intituto Nazionale Neurologico C Besta, Milano, Italy.

出版信息

Neuropathology. 2008 Dec;28(6):633-9. doi: 10.1111/j.1440-1789.2008.00900.x. Epub 2008 Apr 1.

Abstract

We report a case of glioblastoma (GBM) occurring 8 years after radiation therapy for a medulloblastoma. A 15-year-old boy underwent surgery and radiotherapy for a medulloblastoma and 8 years later he developed a second tumor at the same site. The second lesion showed different histological and molecular features, was diagnosed as a glioblastoma and fulfilled the criteria of radiation-induced neoplasm. Mutational analysis of the p53 gene showed a C to G transition at codon 176 in tumor DNA. LOH was detected at 17p and 19q. The tumor also showed O6-methylguanine-DNA methyl-transferase (MGMT) promoter methylation and no amplification of EGF receptor. In conclusion, the radiation-induced MGMT hyper-methylation and p53 mutations may have a role in the development of a subgroup of radio-induced glioma (RIG), suggesting that these molecular alterations directly cooperate in the genesis of the post-irradiation GBM. Moreover RIGs seem to be a heterogeneous group of tumors that may resemble either primary or secondary GBM.

摘要

我们报告了一例在髓母细胞瘤放射治疗8年后发生胶质母细胞瘤(GBM)的病例。一名15岁男孩因髓母细胞瘤接受了手术和放疗,8年后在同一部位出现了第二个肿瘤。第二个病变显示出不同的组织学和分子特征,被诊断为胶质母细胞瘤,并符合放射性肿瘤的标准。p53基因的突变分析显示肿瘤DNA中密码子176处发生了C到G的转变。在17p和19q处检测到杂合性缺失(LOH)。肿瘤还显示O6-甲基鸟嘌呤-DNA甲基转移酶(MGMT)启动子甲基化,且表皮生长因子受体无扩增。总之,辐射诱导的MGMT高甲基化和p53突变可能在放射性诱导胶质瘤(RIG)的一个亚组的发生中起作用,提示这些分子改变在放疗后GBM的发生中直接协同作用。此外,RIG似乎是一组异质性肿瘤,可能类似于原发性或继发性GBM。

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