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病例报告:脑和长节段脊髓同时出现H3K27M突变型胶质母细胞瘤并伴有急性肺栓塞

Case Report: H3K27M-Mutant Glioblastoma Simultaneously Present in the Brain and Long-Segment Spinal Cord Accompanied by Acute Pulmonary Embolism.

作者信息

Maimaiti Buajieerguli, Mijiti Salamaitiguli, Jiang Ting, Xie Yinyin, Zhao Weixuan, Cheng Yu, Meng Hongmei

机构信息

Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China.

出版信息

Front Oncol. 2022 Feb 8;11:763854. doi: 10.3389/fonc.2021.763854. eCollection 2021.

DOI:10.3389/fonc.2021.763854
PMID:35211394
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8861510/
Abstract

BACKGROUND

Glioblastoma multiforme (GBM) is a highly malignant glioma that rarely presents as an infratentorial tumor. Multicentric (MC) gliomas involve lesions widely separated in space or time, and MC gliomas involving supra- and infratentorial brain regions are rare. In most cases, the infratentorial lesion is seen after surgical manipulation or radiation therapy; it is typically located in the cerebellum or the cervical region, manifesting as metastasis originating from the brain. Besides, venous thromboembolism in brain tumors is usually seen after craniotomy.

CASE PRESENTATION

We present an uncommon adult case of symptomatic H3K27M-mutant MC glioblastoma simultaneously present in the brain, fourth ventricle, and cervical and lumbar spinal cord regions accompanied by acute pulmonary artery embolism in an adult woman who had not undergone previous therapeutic interventions. We also review the literature on this interesting presentation.

CONCLUSION

Our report highlights that clinicians should be alert to the potential alarming presentation of GBM. The incidence of spinal metastasis of cerebral GBM is increasing. Patients with a prior diagnosis of GBM with or without any new onset in the spinal cord should undergo an early MRI of the spinal cord to confirm the diagnosis at an early stage. While management of GBM remains controversial, more research is needed to explore molecular features of GBM further and develop novel targeted therapies for these patients.

摘要

背景

多形性胶质母细胞瘤(GBM)是一种高度恶性的胶质瘤,很少表现为幕下肿瘤。多中心(MC)胶质瘤累及在空间或时间上广泛分离的病变部位,而累及幕上和幕下脑区的MC胶质瘤很少见。在大多数情况下,幕下病变在手术操作或放射治疗后出现;它通常位于小脑或颈部区域,表现为源自脑部的转移瘤。此外,脑肿瘤中的静脉血栓栓塞通常在开颅术后出现。

病例介绍

我们报告了一例不常见的成年病例,一名成年女性在未接受过先前治疗干预的情况下,出现了有症状的H3K27M突变型MC胶质母细胞瘤,同时存在于脑、第四脑室以及颈髓和腰髓区域,并伴有急性肺动脉栓塞。我们还回顾了关于这一有趣表现的文献。

结论

我们的报告强调临床医生应警惕GBM可能出现的警示性表现。脑GBM脊髓转移的发生率正在增加。先前诊断为GBM的患者,无论脊髓有无任何新发症状,都应尽早进行脊髓MRI检查以早期确诊。虽然GBM的治疗仍存在争议,但需要更多研究来进一步探索GBM的分子特征,并为这些患者开发新的靶向治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/7af3defb9c1d/fonc-11-763854-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/942a52a1189c/fonc-11-763854-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/1a7178d52b2a/fonc-11-763854-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/7af3defb9c1d/fonc-11-763854-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/942a52a1189c/fonc-11-763854-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/1a7178d52b2a/fonc-11-763854-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ae9/8861510/7af3defb9c1d/fonc-11-763854-g003.jpg

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