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一名 83 岁女性患有弥漫性中线胶质瘤,伴有 H3 K27M 突变。

Diffuse midline glioma with H3 K27M-mutation in an 83-year-old woman.

机构信息

Department of Neurosurgery, Duke University Medical Center, Durham, NC 27710, USA.

Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.

出版信息

CNS Oncol. 2021 Jun 1;10(2):CNS71. doi: 10.2217/cns-2020-0030. Epub 2021 Apr 28.

DOI:10.2217/cns-2020-0030
PMID:33908265
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8162147/
Abstract

Diffuse midline gliomas harboring histone H3 K27M mutations are most commonly found in the brainstem of children. This mutation confers a WHO grade IV designation and is associated with a particularly poor prognosis. Although traditionally considered to be a disease of children and young adults, a number of recent reports have described H3 K27M mutations in older adults with diffuse midline gliomas. Here, we present the unusual case of a diffuse midline glioma in the pons and cerebellum of an 83-year-old woman and review the evolving clinical literature on this entity in adults. This case underscores that it may occur even in older adults, in whom prognostic and treatment paradigms used in pediatrics may not be directly applicable.

摘要

弥漫性中线胶质瘤中存在组蛋白 H3 K27M 突变,最常见于儿童的脑干中。这种突变赋予了世界卫生组织(WHO)分级 IV ,并且与预后特别差相关。尽管传统上认为这是一种儿童和青年期的疾病,但最近有一些报告描述了在患有弥漫性中线胶质瘤的老年患者中存在 H3 K27M 突变。在这里,我们报告了一例罕见的 83 岁女性桥脑和小脑弥漫性中线胶质瘤,并回顾了关于成人这一实体的不断发展的临床文献。这个病例强调了它甚至可能发生在老年患者中,在这些患者中,儿科中使用的预后和治疗模式可能并不直接适用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/1257c1408937/cns-10-71-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/b9f9028ffa9a/cns-10-71-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/baa145b2e00f/cns-10-71-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/1257c1408937/cns-10-71-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/b9f9028ffa9a/cns-10-71-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/baa145b2e00f/cns-10-71-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d828/8162147/1257c1408937/cns-10-71-g3.jpg

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本文引用的文献

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2
Diffuse Intrinsic Pontine Glioma: From Diagnosis to Next-Generation Clinical Trials.弥漫性脑桥内在型胶质瘤:从诊断到下一代临床试验
Curr Treat Options Neurol. 2019 Jul 10;21(8):37. doi: 10.1007/s11940-019-0577-y.
3
cIMPACT-NOW: a practical summary of diagnostic points from Round 1 updates.cIMPACT-NOW:一轮更新诊断要点的实用总结。
帕比司他治疗携带H3 K27M突变的成人弥漫性中线胶质瘤:单中心经验
J Neurooncol. 2022 Mar;157(1):91-100. doi: 10.1007/s11060-022-03950-8. Epub 2022 Jan 25.
Brain Pathol. 2019 Jul;29(4):469-472. doi: 10.1111/bpa.12732. Epub 2019 May 22.
4
Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas.影像学诊断的中线胶质瘤中 H3 K27M 突变的发生率及临床病理特征。
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5
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Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations.小脑高级别胶质瘤不存在与幕上高级别胶质瘤相同的分子改变,且可能显示组蛋白H3基因突变。
Clin Neuropathol. 2018 Sep/Oct;37(5):209-216. doi: 10.5414/NP301104.
7
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Hum Pathol. 2018 Aug;78:89-96. doi: 10.1016/j.humpath.2018.04.015. Epub 2018 May 1.
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