弥漫性半球胶质瘤临床病理特征及分子病理特征分析
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Analysis of clinicopathological features and molecular pathological features of diffuse hemispheric glioma
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    摘要:

    目的 探讨弥漫性半球胶质瘤(DHG)的临床病理特征及分子病理特征。方法 选取 2021 年 1 月— 2023 年 5 月于首都医科大学附属北京天坛医院神经外科接受手术切除或立体定向活检 的 27 例 DHG 患者为研究对象,收集患者临床资料并进行随访。采用苏木素 - 伊红染色及免疫组织化 学染色检测肿瘤细胞特征性的蛋白表达;采用二代测序 + 焦磷酸测序的方法检测肿瘤分子病理学特征。 结果 27 例 DHG 患者的中位发病年龄为 22.5 岁;男性占 59.3%(16/27);24 例肿瘤主要位于单侧额、顶、 颞叶,仅 3 例位于双侧大脑半球。组织病理学结果显示,27 例肿瘤形态学上 5 例呈星形细胞瘤形态, 17 例呈胶质母细胞瘤形态,1 例呈胶质母细胞瘤伴节细胞样分化,4 例呈原始神经外胚层肿瘤形态。免 疫组化染色结果显示,27 例肿瘤胶质纤维酸性蛋白染色均为弥漫阳性,少突胶质细胞转录因子 2 蛋白阴 性表达,α- 地中海贫血 / 精神发育迟滞综合征 X 染色体相关基因表达缺失,p53 蛋白呈错义突变或无义 突变表达,异柠檬酸脱氢酶 1 R132H、异柠檬酸脱氢酶 2 R172K、H3K27M、BRAF V600E 蛋白均呈阴性 表达,24 例肿瘤细胞核不同程度地表达 H3.3G34R 蛋白,3 例肿瘤弥漫性表达 H3.3G34V 蛋白。Ki67 增殖 指数 3%~80% 不等。分子病理学检测结果显示,所有肿瘤均出现H3F3A基因H3.3 G34(35)突变,23 例 伴ATRX缺失,27 例均伴TP53突变。随访 2~24 个月,其中 5 例在确诊 10~24 个月后死亡,中位无进展 生存期为 6.5 个月,中位总生存时间为 11 个月,5 例失访。结论 DHG恶性程度高,尽管全切或近全切 病变加放疗或化疗,患者仍很快复发进展或死亡。因此,对于DHG进行免疫组化及分子病理检测是必 要的,更有利于对DHG患者的积极治疗和预后评估。

    Abstract:

    Objective To investigate the clinicopathological and molecular pathological features of diffuse hemispheric glioma (DHG). Methods A total of 27 DHG patients who underwent surgical resection or stereotactic biopsy at the Neurosurgery Department of Beijing Tiantan Hospital Affiliated to Capital Medical University from January 2021 to May 2023 were selected as the study subjects. Clinical data of the patients were collected and followed up. Hematoxylin eosin staining and immunohistochemical staining were used to detect the characteristic protein expression in tumor cells. The next generation sequencing and pyrosequencing methods were used to detect the molecular pathology characteristics of tumors. Results The median age of onset for 27 DHG patients was 22.5 years old; 59.3% (16/27) were males; 24 cases of tumors mainly located in unilateral frontal, parietal, and temporal lobes, with only 3 cases located in bilateral cerebral hemispheres. The histopathological results showed that 5 out of 27 tumors had the morphology of astrocytoma, 17 had the morphology of glioblastoma, 1 had glioblastoma with ganglion like differentiation, and 4 had the morphology of primitive neuroectodermal tumors. The immunohistochemical staining results showed that all 27 cases of tumor glial fibrillary acidic protein staining were diffuse positive, and transcription factor 2 protein expression in oligodendrocytes was negative, α- the expression of X-chromosome related genes in thalassemia/mental retardation syndrome was missing, and p53 protein was expressed with missense or nonsense mutations. Isocitrate dehydrogenase 1 R132H, isocitrate dehydrogenase 2 R172K, H3K27M, and BRAF V600E proteins were all negative. 24 cases of tumor cell nuclei expressed H3.3G34R protein to varying degrees, and 3 cases of tumors diffusely expressed H3.3G34V protein. The Ki67 proliferation index varied from 3%-80%. The molecular pathological results showed that all tumors had H3F3A gene H3.3 G34 (35) mutations, 23 cases with ATRX deletion, and 27 cases with TP53 mutations. Follow up for 2-24 months, of which 5 cases died 10-24 months after diagnosis, with a median progression free survival of 6.5 months and a median total survival of 11 months. 5 cases were lost to follow-up. Conclusions DHG has a high degree of malignancy, and despite the addition of radiotherapy or chemotherapy for total or near total resection lesions, patients still quickly relapse, progress, or die. Therefore, immunohistochemical and molecular pathological testing of DHG is necessary, which is more conducive to active treatment and prognostic evaluation of DHG patients.

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张立英,常青,杜江.弥漫性半球胶质瘤临床病理特征及分子病理特征分析[J].神经疾病与精神卫生,2024,(5).
DOI :10.3969/j. issn.1009-6574.2024.05.005.

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  • 在线发布日期: 2024-05-31