青少年多形性低级别神经上皮肿瘤的临床病理及分子病理特征分析  

Research progress on the clinical pathological characteristics and molecular pathological characteristics of polymorphous low‑grade neuroepithelial tumor of the young

作　　者：邹婉婧 徐丽[1] 苏玉金[1] 刘震 王军梅[1] Zou Wanjing;Xu Li;Su Yujin;Liu Zhen;Wang Junmei(Beijing Institute of Neurosurgery,Neuropathology Center,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;Department of Neurosurgery,Beijing Shunyi District Hospital,Beijing 101300,China)

机构地区：[1]北京市神经外科研究所,首都医科大学附属北京天坛医院神经病理中心,100070 [2]北京市顺义区医院神经外科,101300

出　　处：《神经疾病与精神卫生》2024年第5期341-347,共7页Journal of Neuroscience and Mental Health

摘　　要：目的分析青少年多形性低级别神经上皮肿瘤(PLNTY)的临床病理及分子病理特点。方法选取2021年5月—2023年5月于首都医科大学附属北京天坛医院接受手术治疗的16例PLNTY患者为研究对象,收集患者临床及影像学资料。采用苏木精-伊红染色、免疫组织化学染色及基因测序检测肿瘤组织形态学及分子遗传学变化,电话随访及查阅影像学资料了解患者的症状改善情况、有无放化疗及肿瘤复发情况。结果16例PLNTY患者中位发病年龄24岁,男女比例相当(1∶1);5例(5/16)呈急性起病(起病时间<3个月);临床症状以不同程度的癫痫发作为主;8例(8/16)肿瘤位于颞叶,5例(5/16)位于顶枕叶。增强磁共振成像扫描显示,11例(11/16)无明显强化,3例(3/16)出现轻度不均匀强化,2例(2/16)明显不均匀强化。14例(14/16)患者术后癫痫症状改善,其中1例复发。组织病理学结果显示肿瘤呈浸润性生长,位于皮层及皮层下白质,可见多形性和少突样细胞形态,并见枝芽状细小血管,12例(12/16)伴钙化;其中1例复发再次手术切除的标本中呈现恶性转化,表现为局部细胞密度增高,可见核分裂象、微血管增生和栅栏样坏死。16例肿瘤免疫组织化学染色结果显示,胶质纤维酸性蛋白(GFAP)、少突胶质细胞转录因子2(Olig2)及CD34弥漫阳性,突触素呈阴性表达,其中14例ki67增殖指数≤4%,恶性转化病例的Ki67增殖指数为20%。7例PLNTY二代测序结果显示,以BRAF或FGFR分子变异为主,其中3例(3/7)存在O6-甲基鸟嘌呤-DNA甲基转移酶启动子(MGMT)甲基化;1例原发及复发的病例中均检测到FGFR3::TACC3融合,伴TERT启动子突变,且在复发病例中出现了10号染色体缺失及CDK4、MDM2扩增。结论PLNTY好发于青少年,为一种长期癫痫相关肿瘤,多见于颞叶及顶枕叶;肿瘤呈浸润性生长,可见多形性细胞和少突样细胞成分,CD34弥漫阳性,分子改变以BRAF或FGFR变异为主。大部分预后Objective To explore the clinical pathological and molecular genetic characteristics of polymorphous low-grade neuroepithelial tumor of the young(PLNTY).Methods A total of 16 patients with PLNTY were recruited as research subjects,who underwent surgical treatment at Beijing Tiantan Hospital affiliated to Capital Medical University from May 2021 to May 2023.The clinical and imaging data were collected.Hematoxylin eosin staining,immunohistochemistry staining,and gene sequencing were used to detect morphological and molecular genetic changes in tumor tissue.Patients were followed up on symptom improvement,the presence of radiotherapy and chemotherapy,and tumor recurrence through telephone and imaging follow-up.Results The median age of onset was 24 years in the 16 cases of PLNTY,and the maleto-female ratio was 1∶1.Five cases(5/16)presented with acute onset(onset time<3 months).The clinical symptoms are mainly characterized by varying degrees of epileptic seizures.Eight cases(8/16)were located in the temporal lobe,and 5 cases(5/16)were located in the parietal occipital lobe.Enhanced magnetic resonance imaging scan showed no significant enhancement in 11 cases(11/16),mild heterogeneous enhancement in 3 cases(3/16),and significant heterogeneous enhancement in 2 cases(2/16).Fourteen patients(14/16)showed improvement in postoperative epilepsy symptoms,with 1 case experiencing recurrence.The histopathological results showed that the tumor showed invasive growth,located in the cortex and subcortical white matter,with pleomorphic and oligodendrocyte like cell morphology and branching small blood vessels.Twelve cases(12/16)were accompanied by calcification.One case of recurrent resected specimen showed malignant transformation,characterized by increased local cell density,visible nuclear mitotic figures,neovascularization,and palisading necrosis.The immunohistochemical staining results of 16 cases of tumors showed diffuse positive expression of glial fibrillary acidic protein(GFAP),oligodendrocyte transcription factor 2(Ol

关 键 词：青少年 神经胶质瘤 病理学 多形性低级别神经上皮肿瘤 

分 类 号：R739.4[医药卫生—肿瘤]