摘要
目的探讨弥漫性中线胶质瘤(DMGs)的临床病理特征,提高对该病的认识。方法回顾性分析郑州大学第一附属医院既往诊治的46例弥漫性中线胶质瘤的病例资料,对其临床特征、病理学特征、免疫表型及分子遗传学特征进行观察。结果患者共46例,男24例,女22例,发病年龄3~63岁,中位年龄14岁。43例(93.5%,43/46)肿瘤位于颅内(21例位于脑干,20例位于丘脑,2例位于松果体区),余3例位于脊髓。病理组织学多表现为高级别胶质瘤,肿瘤细胞弥漫浸润性生长,组织形态较单一,瘤细胞体积较小,多呈星形细胞形态,也可见少突胶质细胞形态或大而多形细胞,部分病例可见微血管增生及坏死,可见病理性核分裂象。免疫组化结果显示,46例均表达GFAP(100%,46/46)、Oligo-2(100%,46/46);40例ATRX表现核的阳性(87.0%,40/46),6例ATRX表达缺失(13.0%,6/46);46例患者H3K27M均呈弥漫性核强阳性表达(100%,46/46),H3K27me3表达丢失或者下调。Ki-67增殖指数2%~70%,多数患者Ki-67增殖指数较高。46例患者均行IDH基因及H3F3A基因检测,个别患者加做HIST1H3B基因检测。其中IDH基因均为野生型(100%,46/46),45例患者检测到H3F3A基因K27M突变(97.8%,45/46),1例检测到HIST1H3B(H3C2)基因K27M突变(2.2%,1/46)。结论DMGs是发生于中线部位的一种弥漫性生长的H3K27M突变的胶质瘤,较多发生于儿童及年轻成人,好发的中线部位是丘脑、脑干和脊髓,组织学形态多表现为高级别胶质瘤,预后较差,准确诊断该病对临床及预后判断有显著意义。H3K27M、H3K27me3免疫组化的联合使用在该病中起关键作用。
Objective To investigate the clinicopathological features of diffuse midline gliomas(DMGs)of 46 cases to improve the diagnosis.Methods The clinical data of 46 cases of DMGs were collected,and their clinical features,pathological features,immunophenotype and molecular genetic characteristics were retrospectively analyzed.Results Among the 46 patients with DMGs,there were 24 males and 22 females.The onset age ranged from 3 to 63 years old,with a median age of 14 years.A total of 43 cases(93.5%,43/46)were intracranial(21 cases in brainstem,20 cases in thalamus,2 cases in pineal region),and the remaining 3 cases in spinal cord.Histopathology showed mostly high-grade glioma,with diffuse infiltrative growth of tumor cells and relatively simple histological morphology.The tumor cells were small in size and mostly showed astrocytic morphology,oligodendrocyte morphology or large and polymorphic cells.Microvascular proliferation and necrosis were observed in some cases,and pathological mitosis was observed.Immunohistochemical findings showed that tumor cells expressed GFAP(100%,46/46)and Oligo-2(100%,46/46).ATRX was positive in 40 cases(87.0%,40/46),and ATRX expression was absent in 6 cases(13.0%,6/46).H3K27M was diffused in all 46 patients(100%,46/46),and H3K27me3 expression was lost or down-regulated.The Ki-67 proliferation index ranged from 2%to 70%,and the Ki-67 proliferation index was high in most cases.All 46 cases underwent IDH gene and H3F3A gene detection,and HIST1H3B gene detection was performed in some cases.The IDH gene was wild-type(100%,46/46),H3F3A gene K27M mutation was detected in 45 cases(97.8%,45/46),and HIST1H3B(H3C2)gene K27M mutation was detected in 1 case(2.2%,1/46).Conclusion DMGs is a diffuse growth that occurs in the midline H3K27M mutation of glioma,more in children and young adults,good hair is located in the midline of the thalamus,the brain stem and spinal cord,histological appearance more performance for high grade glioma,prognosis is poorer,accurate diagnosis of the disease is significant for clinical and prognostic significance.The combination of H3K27M and H3K27me3 immunohistochemistry plays a key role in this disease.
作者
张红燕
胡培珠
崔黎
武笑宇
秦慧
ZHANG Hongyan;HU Peizhu;CUI Li;WU Xiaoyu;QIN Hui(Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《河南医学研究》
CAS
2022年第21期3854-3858,共5页
Henan Medical Research
基金
河南省科技厅重大专项(18A310009)。
