婴儿色素性神经外胚层瘤7例临床病理学特征  

Melanotic Neuroectodermal tumor in infants:a clinicopathological study of 7 cases

作　　者：张威[1] 曾宪旭[1] 李迎宾 班振英[1] 裴晓音 何乐健[2] ZHANG Wei;ZENG Xian-xu;LI Ying-bin;BAN zhen-ying;PEI xiao-yin;HE Le-jian(Department of Pathology,The Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Department of Pathology,Beijing Childrens Hospital,Capital Medical University,Beijing 100050,China)

机构地区：[1]郑州大学第三附属医院病理科,郑州450052 [2]首都医科大学附属北京儿童医院病理科,北京100045

出　　处：《医药论坛杂志》2023年第10期36-41,共6页Journal of Medical Forum

基　　金：河南省医学科技攻关计划(联合共建)项目(LHGJ20190332)。

摘　　要：目的 探讨婴儿色素性神经外胚层瘤(Melanotic Neuroectodermal Tumor of Infancy, MNTI)的临床病理、超微形态学、分子遗传学特点、病理诊断及鉴别诊断。方法 收集北京儿童医院6例及郑州大学第三附属医院1例MNT1存档蜡块及相关临床病理资料,对存档切片进行HE染色及免疫组化染色。免疫组化检测肿瘤组织中CK、HMB45、Syn、CgA、NSE、CD99、Ki-67等表达情况,电镜下观察两例肿瘤组织的超微结构,采用实时荧光PCR法检测1例BRAF V600E基因突变情况。结果 7例MNT1中,男孩4例,女孩3例,年龄1月21天到7月11天,平均4.5个月。光学显微镜下观察,7例肿瘤细胞都是呈巢团状、腺泡状、条索状及片状等排列,均可见两种细胞成分,一种较大色素性上皮样细胞,部分细胞胞质内可见多少不等的黑色素颗粒,另一种为小圆形神经母细胞样细胞。肿瘤呈浸润性生长。电镜下观察,色素性上皮样细胞胞质内可见灶状聚集的黑色素小体,小圆细胞细胞质内见少量神经内分泌颗粒。免疫组化结果,色素性上皮样细胞主要表达CK及HMB45等,小圆形细胞主要表达Syn、NSE及CD56等,Ki-67约10~60%。分子检测结果,BRAF V600E基因无突变。随访结果,肿瘤复发率为14.3%(1/7),转移率0%,存活率100%。结论 MNT1是婴幼儿一种罕见的良性肿瘤,肿瘤多位于头颈部,肿瘤细胞主要包括两种细胞形态,一种是上皮样产生色素的大细胞,一种神经母细胞样小圆细胞,明确诊断需要结合临床、组织形态、免疫组织化学染色等结果综合考虑。Objective To investigate clinicopathology,ultrastructural morphology,pathological diagnosis and differential diagnosis of Melanotic Neuroectodermal Tumor of infants(MNTI).Methods Clinical and pathological data of MNTI of seven cases were collected(six from Beijing Children's Hospital and one from the Third Affiliated Hospital of Zhengzhou University).HE staining and immunohistochemical staining were performed.The expressions of CK,Vimentin,Syn,CgA,NSE,CD56,PHOX2B,TH,S-100,HMB45,CD99,Ki-67 and Desmin in the tumor tissues were detected by immunohistochemistry.The ultrastructure of two tumor tissues was observed by electron microscopy.BRAF V600E gene mutation was detected by real-time PCR.Results There were four male and three female,age ranged from 1 month and 21 days to seven months 11 days(mean 4.5 months).Histologically,7 cases of tumor cell nests are clumps,gland bubble,a funicular and flake.All have two kinds of cells compositions,a larger sample pigment epithelial cells,cells without atypia or mild atypia,some cells varying amounts of melanin can be seen in the cytoplasm,another for the small round nerve cell sample cells.The tumor showed invasive growth.Under electron microscope,focal aggregates of melanin bodies were observed in the cytoplasm of pigmentary epithelial cells,and a few neuroendocrine granules were observed in the cytoplasm of small round cells.Immunohistochemical results showed that CK and HMB45were mainly expressed in pigmentary epithelioid cells,and Syn,NSE and CD56 were mainly expressed in small round cells.Ki-67 was about 10-60%.Molecular detection showed that BRAF V600E gene had no mutation.Follow-up results showed that recurrenc rate,metastasis rate,and survival rate were 14.3%(1/7),0%,100%,respectively.Conclusions MNT1 is a rare benign tumor in infants,most of which are located in the head and neck.The tumor cells mainly include two types of cell morphology.One is epithelioid pigment-producing large cells,the other is neuroblast-like small round cells.The diagnosis needs to be comprehen

关 键 词：婴儿肿瘤 婴儿色素性神经外胚层瘤 电镜 免疫组化 PCR 

分 类 号：R739.4[医药卫生—肿瘤]