一名神经纤维瘤病 1 型患者的脂肪源性分化巨细胞胶质母细胞瘤：病例报告。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Neuropathology Pub Date : 2024-08-01 Epub Date: 2024-01-10 DOI:10.1111/neup.12961

Masayuki Shintaku, Tetsuo Hashiba, Masahiro Nonaka, Akio Asai, Koji Tsuta

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引用次数: 0

摘要

一名患有神经纤维瘤病 1 型（NF1）的 45 岁女性在左额叶长了一个肿瘤，该肿瘤具有巨细胞胶质母细胞瘤（GC-GB）的特征。除了典型的 GC-GB 特征外，该肿瘤还出现了脂肪分化，有许多非典型脂肪母细胞和成熟的脂肪细胞。包括生脂细胞在内的肿瘤细胞对 GFAP、S-100 蛋白、ATRX 和 p53 具有免疫反应。IDH1-R132H、BRAF V600E、突触素、NeuN、p16、错配修复蛋白和 CD34 均为阴性。患者术后约两年未再复发。这是第五例（第二例成人病例）NF1 相关 GC-GB 病例。NF1 基因突变可能在 GC-GB 脂质化分化的发病机制中起了作用。本文简要讨论了脂质化GC-GB与胶质肉瘤或无弹性多形性黄细胞瘤的鉴别诊断。

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Giant cell glioblastoma with lipogenic differentiation in a patient with neurofibromatosis type 1: A case report.

A 45-year-old woman with neurofibromatosis type 1 (NF1) developed a tumor in the left frontal lobe that showed features of giant cell glioblastoma (GC-GB). In addition to the typical GC-GB features, the tumor showed lipogenic differentiation, with many atypical lipoblasts and mature adipocytes. Tumor cells, including the lipogenic cells, were immunoreactive for GFAP, S-100 protein, ATRX, and p53. They were negative for IDH1-R132H, BRAF V600E, synaptophysin, NeuN, p16, mismatch repair proteins, and CD34. The patient is free from recurrence at approximately two years postoperatively. This is the fifth reported case of NF1-associated GC-GB (the second adult case). NF1 gene mutation might have played a role in the pathogenesis of lipogenic differentiation of GC-GB. The differential diagnosis of lipidized GC-GB from gliosarcoma or anaplastic pleomorphic xanthoastrocytoma is briefly discussed.

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来源期刊

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.