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小脑胶质母细胞瘤的临床特征与发病机制

Clinical characteristics and pathogenesis of cerebellar glioblastoma.

作者信息

Takahashi Yoshinobu, Makino Keishi, Nakamura Hideo, Hide Takuichiro, Yano Shigetoshi, Kamada Hajime, Kuratsu Jun-Ichi

机构信息

Department of Neurosurgery, Graduate School of Medical Science, Kumamoto University, Kumamoto 860-8556, Japan.

Department of Neurosurgery, Hokuto Hospital, Obihiro, Hokkaido 080-0039, Japan.

出版信息

Mol Med Rep. 2014 Nov;10(5):2383-8. doi: 10.3892/mmr.2014.2549. Epub 2014 Sep 9.

Abstract

Cerebellar glioblastomas (GBMs) are rare, with neither their pathogenesis nor prognosis being completely understood. The present study aimed to clarify the clinical characteristics of cerebellar GBMs by comparison with supratentorial GBMs, focusing particularly on the pathogenesis. The clinical factors between cerebellar (n=10) and supratentorial (n=216) GBMs were compared. Additionally, p53 and epidermal growth factor receptor (EGFR) levels were investigated in six patients by immunostaining as well as the isocitrate dehydrogenase 1 (IDH1) status of five patients by direct sequencing. Eight males and two females participated in the present study, the mean age at diagnosis was 56.6 years and the range 37-75 years. Four patients presented with hydrocephalus and one with brainstem involvement, and two patients were diagnosed with neurofibromatosis type 1. Two patients had previously received radiotherapy, eight patients received postoperative radiotherapy and seven chemotherapy. The mean Karnofsky performance status (KPS) score was lower in patients with cerebellar GBMs compared to those with supratentorial GBM; however, the survival times did not differ between the two groups. All of the cases of six cerebellar GBMs were p53‑positive and EGFR‑negative, as detected by immunostaining, consistent with secondary GBM. However, no IDH1 mutations were detected in any of the five cases of cerebellar GBMs analyzed, indicating that these tumors were not of the secondary type. The KPS score with cerebellar GBMs may be lower due to hydrocephalus, which was ameliorated by surgery but may have impacted the survival rate. It was confirmed that cerebellar GBMs were identical to supratentorial GBMs with respect to its clinical features, with the possible exception of the KPS score. The present study's genetic analyses indicated that cerebellar GBMs may develop via a pathway different from that of either primary or secondary GBM.

摘要

小脑胶质母细胞瘤(GBM)较为罕见,其发病机制和预后均未完全明确。本研究旨在通过与幕上GBM进行比较,阐明小脑GBM的临床特征,尤其关注发病机制。比较了小脑GBM(n = 10)和幕上GBM(n = 216)的临床因素。此外,通过免疫染色研究了6例患者的p53和表皮生长因子受体(EGFR)水平,并通过直接测序研究了5例患者的异柠檬酸脱氢酶1(IDH1)状态。本研究共有8例男性和2例女性参与,诊断时的平均年龄为56.6岁,范围为37 - 75岁。4例患者出现脑积水,1例累及脑干,2例被诊断为1型神经纤维瘤病。2例患者先前接受过放疗,8例患者接受了术后放疗,7例接受了化疗。与幕上GBM患者相比,小脑GBM患者的卡诺夫斯基表现状态(KPS)评分较低;然而,两组的生存时间并无差异。通过免疫染色检测,6例小脑GBM病例均为p53阳性且EGFR阴性,与继发性GBM一致。然而,在所分析的5例小脑GBM病例中均未检测到IDH1突变,表明这些肿瘤并非继发性类型。小脑GBM的KPS评分可能因脑积水而较低,手术可改善脑积水,但可能影响生存率。已证实,小脑GBM在临床特征方面与幕上GBM相同,可能除KPS评分外。本研究的基因分析表明,小脑GBM可能通过与原发性或继发性GBM不同的途径发展。

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