一例毛细胞星形细胞瘤,具有间变性和前所未有的遗传改变的组织学特征。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2024-04-01 Epub Date: 2023-10-01 DOI:10.1111/neup.12946
Mayuko Moritsubo, Takuya Furuta, Tetsuya Negoto, Hideo Nakamura, Yusuke Uchiyama, Motohiro Morioka, Koichi Oshima, Yasuo Sugita
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引用次数: 0

摘要

我们报告了一例儿童胶质瘤,其影像学、形态学和遗传学特征不常见。一名一岁男孩偶然在第四脑室出现肿瘤。肿瘤经手术完全切除,并经病理学检查。大多数局限性肿瘤具有毛状特征,但组织学原始且间变性,如细胞数量增加和有丝分裂。Ki-67染色指数在热点处为25%。KIAA1549::BRAF融合和KIAA1549部分缺失通过直接PCR检测,Sanger测序支持。据我们所知,这是第一例同时缺失KIAA1549 p.P1771_P1899和融合KIAA1549::BRAF的神经胶质瘤报告。DNA甲基组分析无法对肿瘤进行分类。目前的肿瘤属于毛细胞星形细胞瘤,具有间变性(aPA)的组织学特征。需要进一步的研究来建立儿科aPA。
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A case of a pilocytic astrocytoma with histological features of anaplasia and unprecedent genetic alterations.

We report a case of pediatric glioma with uncommon imaging, morphological, and genetic features. A one-year-old boy incidentally presented with a tumor in the fourth ventricle. The tumor was completely resected surgically and investigated pathologically. The mostly circumscribed tumor had piloid features but primitive and anaplastic histology, such as increasing cellularity and mitosis. The Ki-67 staining index was 25% at the hotspot. KIAA1549::BRAF fusion and KIAA1549 partial deletions were detected by direct PCR, supported by Sanger sequencing. To the best of our knowledge, this is the first report of a glioma with both deletion of KIAA1549 p.P1771_P1899 and fusion of KIAA1549::BRAF. The tumor could not be classified using DNA methylome analysis. The present tumor fell into the category of pilocytic astrocytoma with histological features of anaplasia (aPA). Further studies are needed to establish pediatric aPA.

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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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