Astrocytoma (CNS WHO grade 4), IDH-mutant with co-occurrence of BRAF p.V600E mutation, and homozygous loss of CDKN2A.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2023-10-01 Epub Date: 2023-02-08 DOI:10.1111/neup.12895
Henning Leske, Hanne Blakstad, Marius Lund-Iversen, Else Kathrine Skovholt, Pitt Niehusmann, Jon-Terje Ramm-Pettersen, Karoline Skogen, Geir Kongelf, Mette Sprauten, Henriette Magelssen, Petter Brandal
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引用次数: 1

Abstract

Molecular alterations nowadays play a crucial role in the diagnosis of brain tumors. Some of these alterations are associated with outcome and/or response to treatment, including sequence variants of isocitrate dehydrogenase (IDH) at position p.R132 or p.R172. Such IDH variants have so far been described in histone H3-wildtype primary brain tumors only in adult-type diffuse gliomas and are associated with a better outcome compared to their IDH-wildtype counterpart, the glioblastoma. Moreover, homozygous loss of CDKN2A and/or CDKN2B in IDH-mutant astrocytomas shortens the median overall survival regardless of histological features of malignancy. Such tumors are therefore considered to be aggressive and graded as WHO central nervous system (CNS) grade 4 lesions. The coexistence of an IDH-sequence variation and a BRAF p.V600E alteration has only rarely been described in diffuse astrocytomas. Due to the small number of cases, little is known about such neoplasms in terms of clinical behavior and response to treatment. Herein we describe the first case, to our knowledge, of an astrocytoma (CNS WHO grade 4), IDH-mutant, and BRAF p.V600E-mutant with homozygous deletion of CDKN2A. Pathologists should be aware that such an expression profile does exist even in WHO CNS grade 4 astrocytomas, IDH-mutant, and are encouraged to test for the BRAF p.V600E sequence variant as such an alteration may provide additional treatment options.

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星形细胞瘤(中枢神经系统世界卫生组织4级),IDH突变伴BRAF p.V600E突变和CDKN2A纯合缺失。
如今,分子改变在脑肿瘤的诊断中起着至关重要的作用。其中一些改变与治疗的结果和/或反应有关,包括p.R132或p.R172位置的异柠檬酸脱氢酶(IDH)的序列变异。到目前为止,这种IDH变体在组蛋白H3野生型原发性脑肿瘤中仅在成人型弥漫性胶质瘤中被描述,并且与IDH野生型对应物胶质母细胞瘤相比,与更好的结果相关。此外,无论恶性肿瘤的组织学特征如何,IDH突变星形细胞瘤中CDKN2A和/或CDKN2B的纯合缺失都会缩短中位总生存率。因此,这种肿瘤被认为是侵袭性的,并被评为世界卫生组织中枢神经系统(CNS)4级病变。在弥漫性星形细胞瘤中,IDH序列变异和BRAF p.V600E改变共存的情况很少被描述。由于病例数量较少,对此类肿瘤的临床行为和治疗反应知之甚少。据我们所知,在本文中,我们描述了第一例星形细胞瘤(CNS世界卫生组织4级)、IDH突变体和BRAF p.V600E突变体,CDKN2A纯合缺失。病理学家应该意识到,即使在世界卫生组织中枢神经系统4级星形细胞瘤(IDH突变型)中也存在这种表达谱,并鼓励检测BRAF p.V600E序列变体,因为这种改变可能提供额外的治疗选择。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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