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一例伴有弥漫性急性术后小脑肿胀的成人多灶性髓母细胞瘤:免疫组化和分子遗传学分析

An adult multifocal medulloblastoma with diffuse acute postoperative cerebellar swelling: immunohistochemical and molecular genetics analysis.

作者信息

Balik Vladimir, Trojanec Radek, Holzerova Milena, Tuckova Lucie, Sulla Igor, Megova Magdalena, Vaverka Miroslav, Hrabalek Lumir, Ehrmann Jiri

机构信息

Department of Neurosurgery, University Hospital Olomouc and Faculty of Medicine and Dentistry, University Hospital Olomouc and Palacky University, Olomouc, Czech Republic,

出版信息

Neurosurg Rev. 2015 Jan;38(1):1-10; discussion 10. doi: 10.1007/s10143-014-0556-4. Epub 2014 Jun 10.

Abstract

Medulloblastoma (MB), the most common malignant tumor typically affecting children, occurs only exceptionally in adults. Multifocal presentation of this malignancy in adulthood is even much rarer—only four cases with favorable postoperative course have been reported, so far. The study illustrates a very rare rapid postoperative clinical deterioration due to diffuse cerebellar swelling (DCS) in an adult multifocal MB (MMB). To the best of their knowledge, authors for the first time performed genetic analysis of MMB and demonstrated expression patterns of selected markers that put the patient within the sonic hedgehog (SHH) molecular subgroup and at least partially explain her unsatisfactory clinical course. Herein, authors summarized the relevant literature concerning this issue with the aim to determine features that would facilitate diagnosis and therapy of such a scarce clinical entity.

摘要

髓母细胞瘤(MB)是最常见的通常影响儿童的恶性肿瘤,在成人中极为罕见。这种恶性肿瘤在成年期的多灶性表现更为罕见——迄今为止,仅报道过4例术后病程良好的病例。该研究阐述了一例成人多灶性髓母细胞瘤(MMB)术后因弥漫性小脑肿胀(DCS)导致极其罕见的快速临床恶化情况。据作者所知,他们首次对MMB进行了基因分析,并展示了所选标志物的表达模式,该患者属于音猬因子(SHH)分子亚组,这至少部分解释了其不尽人意的临床病程。在此,作者总结了关于此问题的相关文献,旨在确定有助于诊断和治疗这种罕见临床病症的特征。

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