Supratentorial multifocal gliomas associated with Ollier disease harboring IDH1 R132H mutation: A case report.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2023-10-01 Epub Date: 2023-03-20 DOI:10.1111/neup.12902
Hiroshi Ikeda, Shigeru Yamaguchi, Yukitomo Ishi, Kento Wakabayashi, Ai Shimizu, Hiromi Kanno-Okada, Takeshi Endo, Mitsutoshi Ota, Michinari Okamoto, Hiroaki Motegi, Norimasa Iwasaki, Miki Fujimura
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引用次数: 0

Abstract

Somatic mosaicism of isocitrate dehydrogenase 1/2 (IDH1/2) mutation is a cause of Ollier disease (OD), characterized by multiple enchondromatosis. A 35-year-old woman who was diagnosed with OD at age 24 underwent resection surgery for multifocal tumors located at the right and left frontal lobes that were discovered incidentally. No apparent spatial connection was observed on preoperative magnetic resonance imaging. Pathological examinations revealed tumor cells with a perinuclear halo in the left frontal lobe tumor, whereas astrocytic tumor cells were observed in the right frontal lobe tumor. Based on positive IDH1 R132H immunostaining and the result of 1p/19q fluorescent in situ hybridization, pathological diagnoses were IDH mutant and 1p/19q-codeleted oligodendroglioma in the right frontal lobe tumor and IDH mutant astrocytoma in the left frontal lobe tumor, respectively. The DNA sequencing revealed IDH1 R132H mutation in the peripheral blood sample and frontal lobe tumors. This case suggested that in patients with OD, astrocytoma and oligodendroglioma can co-occur within the same individual simultaneously, and IDH1 R132H mutation was associated with supratentorial development of gliomas.

与携带IDH1 R132H突变的奥利尔病相关的肿瘤上多灶性胶质瘤:一例报告。
异柠檬酸脱氢酶1/2(IDH1/2)突变的体细胞嵌合体是奥利尔病(OD)的一个原因,其特征是多发性软骨瘤。一名35岁的女性在24岁时被诊断为OD,她接受了位于左右额叶的多灶性肿瘤的切除手术,这些肿瘤是偶然发现的。术前磁共振成像未观察到明显的空间联系。病理检查显示左额叶肿瘤中有核周晕的肿瘤细胞,而右额叶肿瘤中观察到星形细胞肿瘤细胞。根据阳性的IDH1R132H免疫染色和1p/19q荧光原位杂交结果,病理诊断分别为右额叶肿瘤中的IDH突变型和1p/19-q编码的少突胶质瘤和左额叶肿瘤中IDH突变的星形细胞瘤。DNA测序显示外周血样本和额叶肿瘤中存在IDH1 R132H突变。该病例表明,在OD患者中,星形细胞瘤和少突胶质瘤可以同时发生在同一个体内,IDH1 R132H突变与胶质瘤的幕上发展有关。
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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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