伴有ACVR1突变的进行性骨化纤维发育不良患者中线脑错构瘤病变。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2023-08-01 DOI:10.1111/neup.12892
Jesse Lee Kresak, Meggen Walsh, Anthony Tuzzolo, Zehra Ordulu, Jason Gregory
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引用次数: 0

摘要

进行性骨化纤维发育不良(FOP)是一种罕见的遗传性疾病,其特征是软组织结构广泛异位骨化,导致严重的运动限制。FOP是由激活受体IA型(ACVR1)基因的种系突变引起的。令人担忧的事实是,多达三分之一的弥漫性内生性脑桥胶质瘤(DIPG)也含有相同的ACVR1点突变。FOP累及中枢神经系统(CNS)的影像学报告描述了脑干肿块;然而,关于这些病变的组织病理学或发病机制的文献很少。在此,我们报告一例FOP患者脑干肿块的详细神经病理学表现,并提示该肿瘤本质上是错构瘤。该报告,以及对放射学和实验室数据的文献回顾,支持了ACVR1突变可能刺激中枢神经系统增殖的观点,主要是在脑干,但可能不是肿瘤驱动因素。这些病变可在尸检时发现,可能与死亡无关。
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Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement. FOP is caused by a germline mutation in the activating receptor type IA (ACVR1) gene. Worrisome is the fact that up to a third of diffuse intrinsic pontine gliomas (DIPG) also harbor the same point mutation in ACVR1. Radiological reports of central nervous system (CNS) involvement by FOP have described brainstem masses; however, the literature on the histopathology or pathogenesis of these lesions is scant. Here we present detailed neuropathologic findings of a brainstem mass in a patient with FOP and suggest that the tumor is hamartomatous in nature. This report, along with a literature review of radiographic and laboratory data, offers support for the idea that the ACVR1 mutation may incite CNS proliferation, predominantly in the brainstem, but is probably not an oncologic driver. These lesions may be seen at autopsy and are likely noncontributory to death.

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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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