Diffuse Midline Glioma H3 K27-Mutant in an Adult: A Rare Case

International Journal on Oncology and Radiotherapy Pub Date : 2022-07-20 DOI:10.51626/ijor.2022.03.00013

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Abstract

Diffuse midline glioma, H3K27M-mutant, WHO grade IV (DMGM), is a newly established entity in the 2016 WHO classification. It is uncommon and the median age of diagnosis is 5-11 years. Due to their rarity in adults, their recognition can be challenging even though the histopathology and phenotypes of adult and pediatric cases are similar. We report a case of a middle-aged female who presented with seizures and persistent headache, where imaging revealed an enhancing suprasellar mass involving the hypothalamus and fornix and she was diagnosed with H3K27M-mutant diffuse midline glioma. DMGM is extremely rare in adults and therefore, more cases need to be reported to enable their recognize among neuropathologists. Also, this report suggests a needed emphasis on obtaining molecular studies whenever possible if there is a suspicion of H3K27M-mutant DMGM, given that they are extremely aggressive and have poor clinical outcomes in most cases. The case was presented at College of American Pathologists (CAP) annual conference in Chicago (October 2018) and the abstract was published in Archives as an online supplement only. Keywords: Glioma; Suprasellar; Hypothalamus; Fornix; Midbrain; Thalamus

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成人弥漫性中线胶质瘤H3 k27突变:罕见病例

弥漫性中线胶质瘤，h3k27m突变体，WHO IV级(DMGM)，是2016年WHO分类中新建立的一个实体。它不常见，诊断的中位年龄为5-11岁。由于其在成人中罕见，即使成人和儿童病例的组织病理学和表型相似，其识别也可能具有挑战性。我们报告一个中年女性的病例，她表现为癫痫发作和持续性头痛，影像学显示一个增强的鞍上肿块累及下丘脑和穹窿，她被诊断为h3k27m突变的弥漫性中线胶质瘤。DMGM在成人中极为罕见，因此，需要报道更多的病例以使神经病理学家能够识别它们。此外，本报告建议，如果怀疑存在h3k27m突变的DMGM，则需要尽可能强调进行分子研究，因为它们具有极强的侵袭性，并且在大多数情况下临床结果较差。该病例于2018年10月在芝加哥举行的美国病理学家学会(CAP)年会上发表，摘要仅作为在线增刊发表在《档案》杂志上。关键词:神经胶质瘤;上;下丘脑;穹窿;中脑;丘脑

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International Journal on Oncology and Radiotherapy

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