被诊断为H3F3A和FGFR合并弥漫性中线胶质瘤的恶性脑白质疾病。

IF 4.4 2区医学 Q1 CLINICAL NEUROLOGY

Annals of Clinical and Translational Neurology Pub Date : 2024-11-01 Epub Date: 2024-10-23 DOI:10.1002/acn3.52180

Larysa Benistant, Damien Reita, Maleka Schenck, Vincent Castelain, Hélène Cebula, Benoît Lhermitte, Laura Bender

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引用次数: 0

摘要

弥漫性中线胶质瘤的临床表现尤为复杂和具有挑战性。这例罕见病例涉及一名合并 H3F3A 和表皮生长因子受体（FGFR）弥漫性中线胶质瘤的患者，临床表现为暴发性脑脊髓膜炎。一名22岁的男性患者出现了致命的暴发性弥漫性脑脊髓膜炎。血浆和脑脊液循环肿瘤DNA的新一代测序显示弥漫性中线胶质瘤存在H3F3A和FGFR突变。尸检时收集的脑膜组织的甲基组分析证实了这一诊断。液体活检在诊断弥漫性中线胶质瘤（主要是那些仅有脑膜外表现的胶质瘤）中发挥着至关重要的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma.

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Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma.

Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and FGFR diffuse midline glioma with a clinical presentation of fulminant leptomeningitis. A 22-year-old male presented with fatal and fulminant diffuse leptomeningitis. Next-generation sequencing of plasma and cerebrospinal circulating tumour DNA revealed diffuse midline gliomas with H3F3A and FGFR mutations. Methylome analysis of meningeal tissue collected during autopsy confirmed the diagnosis. Liquid biopsy plays a crucial role in the diagnosis of diffuse midline gliomas, mainly those with exclusively leptomeningeal presentations.

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来源期刊

Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)

CiteScore

9.10

自引率

1.90%

发文量

218

审稿时长

8 weeks

期刊介绍： Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.