摘要
目的 探讨中枢神经系统伴ALK基因融合的婴儿型半球胶质瘤(infant-type hemispheric glioma, IHG)临床病理学、分子学特征、治疗与预后。方法 收集2例IHG的临床资料,采用免疫组化检测GFAP、Olig2、Syn、NeuN、H3K27M、H3K27me3、H3G34V、H3G34R、ALK和BRAF等表达,应用FISH和NGS法检测ALK融合基因,并复习相关文献。结果 例1,男性,15个月,头颅MRI示左侧额颞叶巨大占位。例2(外院会诊病例),男性,18个月,发现额颞叶占位。镜检:例1肿瘤细胞呈弥漫片状分布,部分区域排列呈小结节状,被纤维血管分隔,细胞密度高,细胞核呈圆形、卵圆形,核分裂象易见,伴出血、坏死。例2,肿瘤细胞弥漫分布,部分围绕血管形成假菊形团,部分呈束状排列,细胞轻-中度异型,核圆形、卵圆形,淡染,有小核仁,核分裂象罕见,未见微血管增生和坏死。免疫表型:例1肿瘤细胞GFAP、NeuN局灶阳性,H3K27me3、ALK(细胞质、细胞膜)和ATRX均弥漫阳性,p53部分阳性(30%),Olig2、Syn、H3K27M、H3G34V、H3G34R和BRAF均阴性,Ki67增殖指数20%。例2肿瘤细胞GFAP、ATRX、H3K27me3、ALK(细胞质、细胞膜)和Olig2均弥漫阳性,Syn局灶弱阳性,NeuN、p53均阴性,Ki67增殖指数5%。FISH、NGS检测显示2例均有ALK基因融合,例1为EML4∷ALK融合,例2为LRRFIP1∷ALK融合。随访7个月,例1残余病灶缩小,一般情况良好;例2失访。结论 IHG组织学多表现为高级别胶质瘤或伴间变特征,ALK变异型的异质性较高,也可表现为低级别胶质瘤形态,需与其他高级别胶质瘤、婴儿促纤维增生型节细胞胶质瘤/星形细胞瘤、室管膜瘤等鉴别。
Purpose To investigate the clinicopathological features,molecular features,treatment and prognosis of infant-type hemispheric glioma(IHG)with ALK gene fusion of central nervous system.Methods Clinical data of 2 cases of IHG were collected,and the expression of GFAP,Olig2,Syn,NeuN,H3K27M,H3K27me3,H3G34V,H3G34R,ALK,and BRAF were detected using immunohistochemistry.FISH and NGS method was used to detect ALK fusion genes,and relevant literatures were reviewed.Results Case 1,a male,15 months old,showed a huge mass in the left frontal and temporal lobe on cranial MRI.Case 2(external hospital consultation),a male,18 months old,was found to have a space occupying lesion in the frontaltemporal lobe.Microscopic examination:in case 1,tumor cells showed diffuse patchy pattern,with small nodular shapes in some areas which separated by fibrous blood vessels.The cell density was high,and the nucleus was round or oval.The mitotic was easy to see,accompanied by bleeding and necrosis.In case 2,tumor cells were diffusely distributed,some of them formed pseudorosette around blood vessels and others arranged in bundles.The cells were mild to moderate dysplasia with round or oval nuclei,light staining,small nucleoli,rare mitotic figures,and no microvascular proliferation or necrosis.Immunophenotypes:in case 1 tumor cells were focal positive for GFAP and NeuN,diffuse positive for H3K27me3,ALK(cytoplasm and cell membrane),and ATRX,p53 positive(30%),negative for Olig2,Syn,H3K27M,H3G34V,H3G34R,and BRAF,Ki67 proliferation index of 20%.In case 2:tumor cells were diffusedly expressed GFAP,ATRX,H3K27me3,ALK(cytoplasm and cell membrane),and Olig2,Syn was weakly positive,NeuN and p53 were negative,and Ki67 proliferation index was 5%.FISH and NGS tests showed ALK gene fusion in both cases,with EML4∷ALK fusion in case 1 and LRRFIP1∷ALK fusion in case 2.Follow up for 7 months showed that the residual lesion in case 1 had shrunk and was generally in good condition;case 2 lost follow-up.Conclusion The histology of IHG often presents as high-grade gliomas or accompanied by anaplastic features.The heterogeneity of ALK variants can also manifest as low-grade gliomas,which need to be differentiated from other high-grade gliomas,desmoplastic infantile ganglioglioma/astrocytoma,ependymoma,etc.
作者
王瑞芬
管雯斌
严敏骅
韩蕙如
琚璐
王立峰
WANG Ruifen;GUAN Wenbin;YAN Minhua;HAN Huiru;JU Lu;WANG Lifeng(Department of Pathology,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China)
出处
《临床与实验病理学杂志》
CAS
北大核心
2024年第7期700-704,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
国家卫健委能力建设和继续教育中心(BLC2023JJSJ008)。
关键词
婴儿型半球胶质瘤
ALK融合
鉴别诊断
靶向治疗
infant-type hemispheric glioma
ALK fusion
differential diagnosis
targeted therapy
