非典型畸胎样/横纹肌样肿瘤临床病理误诊分析  

Clinicopathological misdiagnosis analysis of atypical teratoid/rhabdoid tumors

作　　者：刘燕飞 严小松 李婷婷 惠军朋 温玉婷 陈黄滔 王哲 杨丽 Liu Yanfei;Yan Xiaosong;Li Tingting;Hui Junpeng;Wen Yuting;Chen Huangtao;Wang Zhe;Yang Li(Department of Pathology,Xi′an Children′s Hospital,Xi′an 710003,China;Department of Pathology,Xi′an No.9 Hospital,Xi′an 710054,China;Department of Neurosurgery,the Second Affiliated Hospital of Xi′an Jiaotong University,Xi′an 710004,China;Department of Pathology,the First Affiliated Hospital of Air Force Medical University,Xi′an 710032,China)

机构地区：[1]西安市儿童医院病理科,西安710003 [2]西安市第九医院病理科,西安710054 [3]西安交通大学第二附属医院神经外科,西安710004 [4]空军军医大学第一附属医院病理科,西安710032

出　　处：《中华实用儿科临床杂志》2025年第2期120-124,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：陕西省重点研发计划一般项目——社会发展领域(2022SF-257);西安市创新能力强基计划——医学研究项目(21YXYJ0012)。

摘　　要：目的观察非典型畸胎样/横纹肌样肿瘤(AT/RT)的临床病理学特点,分析病理误诊原因,总结诊断策略。方法病例系列研究。回顾性分析西安市儿童医院病理科2010年1月至2018年12月误诊的5例(误诊组)和同期确诊的8例AT/RT病例(确诊组),行苏木精-伊红、免疫组织化学染色,观察临床特点、组织学形态及免疫表型。2组率的比较采用Fisher′s精确检验,均数比较采用独立样本t检验,中位数比较采用Mann-Whitney U检验。结果(1)误诊组男4例,女1例;中位年龄24个月;4/5例肿瘤位于幕下,1/5例位于脊髓。组织形态学:3/5例可见横纹肌样细胞,2/5例由胚胎样小细胞构成;免疫组织化学染色:4/5例INI1表达缺失,1/5例BRG1表达缺失,均显示多免疫表型。确诊组男7例,女1例,中位年龄22个月,4/8例位于幕上,4/8例位于幕下;组织学8例均可见横纹肌样细胞,免疫组织化学染色均为INI1表达缺失的病例,均显示多免疫表型。(2)误诊组中横纹肌样细胞占肿瘤的百分比[0.45(0,0.46)]低于确诊组[0.55(0.40,0.85)],差异有统计学意义(Z=-2.064,P=0.039)。结论发生部位不定、组织形态多样、免疫组织化学显示多表型且存在罕见的BRG1缺失性病例是AT/RT误诊的原因。对形态学有横纹肌样、上皮样和/或胚胎样小细胞的高级别肿瘤,应将AT/RT列为鉴别诊断,免疫组织化学方案应包含INI1和BRG1。Objective To analyze the clinicopathological characteristics of atypical teratoid/rhabdoid tumors(AT/RT)and the causes of pathological misdiagnosis,and summarize diagnostic strategies.Methods A case series study was conducted.Specifically,the data of 5 misdiagnosed(misdiagnosed group)and 8 confirmed AT/RT cases(confirmed group)in the Department of Pathology of Xi′an Children′s Hospital from January 2010 to December 2018 were retrospectively analyzed.Hematoxylin-eosin and immunohistochemical staining were performed to analyze clinical features,morphology,and immune phenotypes.Rates were compared between the misdiagnosed and confirmed groups by a Fisher′s exact test.Means were compared using an independent sample t-test.Medians were compared by a Mann-Whitney U test.Results(1)There were 4 males and 1 female in the misdiagnosed group,with a median age of 24 months.In this group,4/5 tumors were located in the posterior cranial fossa,and 1/5 tumors were located in the spinal cord.Morphologically,rhabdoid cells were detected in 3/5 cases,and the other 2/5 cases consisted of small embryonal cells.Immunohistochemically,INI1 and BRG1 expressions were absent in 4/5 and 1/5 cases,respectively.All of them showed multiple immunephenotypes.There were 7 males and 1 female in the confirmed group,with a median age of 22 months.In the confirmed group,4/8 tumors were located in the supratentorial region and 4/8 tumors were located in the infratentorial region.Rhabdoid cells,deficient INI1 expression and multiple immunephenotypes were observed in all 8 cases.(2)The percentage of rhabdoid cells in the misdiagnosed group was significantly lower[0.45(0,0.46)]than that in the confirmed group[0.55(0.40,0.85)](Z=-2.064,P=0.039).Conclusions The causes of misdiagnosis of AT/RT are variable sites of occurrence,diverse histomorphology,multiple phenotypes in immunohistochemistry and rare BRG1 deficiency.For high-grade rhabdoid,epithelioid,and/or embryonic small cell tumors,AT/RT should be differentiated and immunohistochemistry protocols

关 键 词：非典型畸胎样/横纹肌样肿瘤 免疫组织化学 BRG1 误诊 

分 类 号：R738.7[医药卫生—肿瘤]