BRAF V600E 突变的儿童型弥漫性低级别胶质瘤的临床病理特征分析
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Clinicopathological features of pediatric-type diffuse low-grade glioma with BRAF V600E mutation
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    目的 探讨BRAF V600E突变的儿童型弥漫性低级别胶质瘤(DLGG)的临床病理学特征。 方法 选取 2021 年 12 月— 2023 年 6 月于首都医科大学附属北京天坛医院神经外科接受手术治疗,且术 后病理学整合诊断为BRAF V600E突变的 15 例儿童型 DLGG 患者为研究对象。根据 WHO 第 5 版神经系 统肿瘤分类进行诊断。分析患者的一般资料,行苏木精 - 伊红及免疫组织化学染色、二代测序方法分析 肿瘤的组织病理学及分子病理学特征。结果 15例患者中,2例患者≤6岁,9例为7~14岁,4例≥15岁; 女性 6 例,男性 9 例;5 例肿瘤在小脑幕上,10 例在小脑幕下;4 例无临床症状,6 例临床症状为头痛、恶心, 3 例临床症状为癫痫发作,2 例存在视觉或听觉异常。二代测序结果显示,15 例患者肿瘤均携带BRAF V600E突变,并排除了IDH基因及组蛋白 H3 的基因突变。二代测序结合免疫组织化学染色方法排除了 CDKN2A/2B的纯合性缺失。形态学分析显示,13 例肿瘤呈弥漫性星形细胞肿瘤的形态学特点,2 例肿瘤 镜下呈少突星形细胞瘤形态。结论 BRAF V600E突变的儿童型 DLGG 较为罕见,主要累及儿童及年轻 成人,常需与颅内其他类型胶质瘤相鉴别。在临床工作中,需将镜下形态学特征与患者临床表现、分子 病理学特征结合综合考虑诊断。

    Abstract:

    Objective To explore the clinicopathological features of pediatric-type diffuse low-grade glioma (DLGG) with BRAF V600E mutation. Methods From December 2021 to June 2023, 15 patients with pediatric-type DLGG who underwent surgery at the Department of Neurosurgery of Beijing Tiantan Hospital affiliated with Capital Medical University and were diagnosed with BRAF V600E mutation through postoperative pathology were selected as the study subject. Diagnosis was based on the WHO 5th edition classification of tumors of the central nervous system. The general information of the patient was analyzed, and the histopathological and molecular pathological features of the tumor were explored using hematoxylin and eosin (HE) and immunohistochemical staining, as well as next-generation sequencing. Results Among the 15 patients, 2 were ≤ 6 years old, 9 were 7 to 14 years old, and 4 were ≥ 15 years old. Six were females and 9 were males. Five cases of tumors were located above the cerebellar tentorium, and 10 cases were located below the cerebellar tentorium. Four cases had no clinical symptoms, 6 cases had clinical symptoms of headache and nausea, 3 cases had epileptic seizures, and 2 cases had visual and auditory abnormalities. The next-generation sequencing results showed that all 15 patients had BRAF V600E mutations in their tumors, and gene mutations in the IDH gene and histone H3 were excluded. The combination of next-generation sequencing and immunohistochemical staining ruled out homozygous deletion of CDKN2A/2B. Morphological analysis showed that 13 cases of tumors exhibited the morphological features of diffuse astrocytoma, while 2 cases showed oligodendrocyte astrocytoma morphology. Conclusions BRAF V600E mutation in pediatric-type DLGG is relatively rare, mainly affecting children and young adults, and often needs to be distinguished from other types of intracranial gliomas. In clinical practice, it is necessary to combine microscopic morphological features with patient clinical manifestations and molecular pathological features for comprehensive diagnosis.

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崔云,刘朝霞,熊志霞,陈慧媛. BRAF V600E 突变的儿童型弥漫性低级别胶质瘤的临床病理特征分析[J].神经疾病与精神卫生,2024,(5).
DOI :10.3969/j. issn.1009-6574.2024.05.002.

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  • 在线发布日期: 2024-05-31