12例幕上室管膜瘤患者临床病理特征及分子遗传学改变  

Clinicopathological characteristics and molecular genetic alterations in 12 patients with supratentorial ependymoma

作　　者：黄钰 张巍[1] 薛晶 苏丽萍[1] HUANG Yu;ZHANG Wei;XUE Jing;SU Liping(Department of Pathology,First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院病理科,乌鲁木齐830054

出　　处：《临床与病理杂志》2024年第10期1359-1367,共9页Journal of Clinical and Pathological Research

基　　金：新疆维吾尔自治区自然科学基金(2022D01D072);省部共建中亚高发病成因与防治国家重点实验室开放课题——精准医学项目(SKL-2022-JZ7)。

摘　　要：目的:幕上室管膜瘤目前分为锌指转位相关(zinc finger translocation-associated,ZFTA)融合阳性型和Yes相关蛋白1(Yes-associated Protein 1,YAP1)融合阳性型,分子分型较组织学分型有更准确的预后预测价值。本研究探讨幕上室管膜瘤患者的临床病理特征及分子遗传学改变。方法:回顾性分析新疆医科大学第一附属医院2022年1月至2023年12月12例确诊幕上室管膜瘤患者的临床病理特征及分子遗传学改变。结果:12例患者中,男5例,女7例;发病年龄4~58岁,平均发病年龄29岁,中位发病年龄30岁;肿瘤直径1.10~9.60 cm,平均直径4.57 cm;世界卫生组织(World Health Organization,WHO)中枢神经系统室管膜瘤组织学分级3级10例,2级2例;11例行肿瘤全切术,1例行肿瘤次全切术;术后有4例接受放射治疗和化学治疗,3例接受单纯放射治疗,5例未接受放射治疗和化学治疗;12例患者均有随访资料,随访时间3~25个月,平均随访时间10.5个月,中位随访时间9个月;截至随访时间终止,2例死亡,10例无进展生存。免疫组织化学结果显示:12例患者肿瘤细胞质及细胞膜中胶质纤维酸性蛋白(glial fibrillary acidic protein,GFAP)呈不同程度的阳性表达,其中6例肿瘤细胞呈不同程度的少突胶质细胞转录因子(oligodendrocyte transcription factor 2,Olig2)阳性表达,6例肿瘤细胞上皮膜抗原(epithelial membrane antigen,EMA)呈不同程度的核旁点状阳性表达;2例患者细胞质及细胞膜中L1细胞黏附分子(L1 cell adhesion molecule,L1CAM)呈不同程度的阳性表达,4例患者细胞核中活化B细胞的核因子kappa轻链增强子P65(nuclear factorκ-light chain enhancerofactivatedBcells, NF-κBP65,又称RELA)呈不同程度的阳性表达,抗ATP依赖的解螺旋酶(alpha thalassemia/mental retardation syndrome X-linked,ATRX)均未见表达缺失;肿瘤细胞中异柠檬酸脱氢酶1(isocitrate dehydrogenase 1,IDH1)不表达,Ki-67增殖指数为3%~60%。高通量测序(next generation seObjective:Supratentorial ependymoma is currently classified into zinc finger translocation associated(ZFTA)fusion-positive and Yes-associated protein 1(YAP 1)fusion-positive subtypes.Molecular subtyping provides a more accurate prognostic prediction than histological subtyping.This study aims to explore the clinicopathological features and molecular genetic alterations in patients with supratentorial ependymoma.Methods:A retrospective analysis was performed on 12 patients with a confirmed diagnosis of supratentorial ependymoma at the First Affiliated Hospital of Xinjiang Medical University from January 2022 to December 2023.Results:Among the 12 patients,5 were male and 7 were female;the age at onset ranged from 4 to 58 years,with an average of 29 years and a median of 30 years;tumor diameters ranged from 1.10 to 9.60 cm,with an average diameter of 4.57 cm.According to the World Health Organization(WHO)histopathological grading for central nervous system ependymoma,10 patients were grade III and 2 patients were grade II.Eleven patients underwent total tumor resection,and 1 patient underwent subtotal resection.Postoperatively,4 patients received both radiotherapy and chemotherapy,3 received radiotherapy alone,and 5 received neither radiotherapy nor chemotherapy.Follow-up data were available for all 12 patients,with follow-up durations ranging from 3 to 25 months(average 10.5 months,median 9 months);at the end of follow-up,2 patients had died while 10 remained progression-free.Immunohistochemical analysis showed variable positive expression of glial fibrillary acidic protein(GFAP)in the cytoplasm and membrane of tumor cells;6 patients showed variable positive expression of oligodendrocyte transcription factor 2(Olig 2)and 6 patients showed perinuclear punctate positive expression of epithelial membrane antigen(EMA).In 2 patients,L 1 cell adhesion molecule(L 1 CAM)was variably positive in the cytoplasm and membrane,and in 4 patients,nuclear expression of nuclearκ-light chain enhancer of activated B cells P 65(NFκB

关 键 词：幕上室管膜瘤 分子遗传学 临床病理特征 基因融合 中枢神经系统肿瘤 

分 类 号：R73[医药卫生—肿瘤]