伴多层菊形团形成的胚胎性肿瘤9例临床病理特征  

Embryonal tumor with multilayered rosettes:a clinicopathological analysis of 9 cases

作　　者：范冲竹 魏雪敏 张振斌 史涛 李智 李海南 FAN Chongzhu;WEI Xuemin;ZHANG Zhenbin;SHI Tao;LI Zhi;LI Hainan(Department of Pathology,Guangdong Sanjiu Brain Hospital,Guangzhou 510510,China;Department of Neurosurgery,Guangdong Sanjiu Brain Hospital,Guangzhou 510510,China;Department of Pathology,Sun Yat-sen Memorial Hospital,Guangzhou 510120,China)

机构地区：[1]广东三九脑科医院病理科,广州510510 [2]广东三九脑科医院神经外科,广州510510 [3]中山大学孙逸仙纪念医院病理科,广州510120

出　　处：《临床与实验病理学杂志》2024年第5期497-502,共6页Chinese Journal of Clinical and Experimental Pathology

基　　金：广东省医学科学技术研究基金(A2023377)。

摘　　要：目的探讨伴多层菊形团形成的胚胎性肿瘤(embryonal tumor with multilayered rosettes,ETMR)的临床病理学特征及分子特征。方法收集9例ETMR的临床资料及生存随访数据,采用免疫组化EnVision两步法检测Syn、LIN28A、vimentin、GFAP、Olig2、S-100、INI1、H3K27me3及Ki67等表达,使用FISH检测C19MC基因,并复习相关文献。结果9例ETMR中男性6例,女性3例,男女比为2∶1;幕上7例,幕下2例,其中位于脑干者影像学表现类似弥漫性内生型桥脑胶质瘤(diffuse intrinsic pontine glioma,DIPG)。组织学形态表现为伴广泛神经毡和真性菊形团的胚胎性肿瘤4例,室管膜母细胞瘤3例,髓上皮瘤2例。免疫表型:LIN28A、Syn、vimentin均阳性,GFAP、CK不同程度阳性,BRG1、INI1和H3K27me3均表达保留,Ki67增殖指数为40%~70%。8例FISH检测出C19MC基因扩增。4例全切肿瘤,2例部分切除肿瘤,1例手术活检,2例手术方式不详;7例手术后辅助治疗。4例发生脑脊膜播散,但无颅外转移。随访时间0~36个月,总生存期36个月,中位生存期10个月,8例死亡。结论ETMR多发生于大脑半球,少数病例可发生于脑干并表现为DIPG的影像学特点,组织学形态多样,基因变异以C19MC基因扩增常见;肿瘤生物学行为高度侵袭性,预后极差,组织学形态联合LIN28A免疫组化检测及C19MC基因检测有助于诊断及鉴别诊断。Purpose To investigate the clinicopathological and molecular of embryonal tumor with multilayered rosettes(ETMR).Methods The clinical data and follow-up data of 9 cases of ETMR were collected,and the expression of Syn,LIN28A,vimentin,GFAP,Olig2,S-100,INI1,H3K27me3,and Ki67 was detected by immunohistochemistry EnVision two-step method.The amplification genes of C19MC were detected by fluorescence in situ hybridization(FISH).And relevant literatures were reviewed.Results There were 6 males and 3 females with 2:1 of M:F;seven cases were located supratentorially and two cases located subratentorially,one of the case located to the brainstem was resemble of diffuse intrinsic pontine glioma in imaging.Histopathologically,there 9 cases were diagnosed as embryonal tumor with abundant neuropil and true rosettes(four cases),ependymoblastoma(three cases),or medulloepithelioma(two cases).Immunohistochemistry showed that LIN28A,Syn and vimentin were positive,GFAP was variable,BRG1,INI1 and H3K27me3 were retained.The Ki67 proliferation index rangeed from 40%to 70%.C19MC amplification were detected in 8 samples by FISH.In all 9 cases,four cases had undergone gross total tumor resection,two cases only subtotal tumor removed,one patient was underwent biopsy,two patients were unknown.Seven patients were adjuvant therapy.Four patients had CSF seeded,but without extraneural metastases.The follow-up time ranged from 0 to 36 months.The overall survival(OS)was 36 months and the median survival was 10 months.Eight patients died within 3 years after their initial diagnosis.Conclusion ETMR almost occurs in the cerebral hemisphere,and a few cases can occur in the brainstem and show the imaging characteristics of DIPG.ETMR have highly aggressive and poor prognosis.The combination of histological,LIN28A immunohistochemistry,and C19MC tests is helpful for diagnosis and differential diagnosis.

关 键 词：伴多层菊形团形成的胚胎性肿瘤 LIN28A C19MC 预后 

分 类 号：R739.41[医药卫生—肿瘤]