CAJ | 학술논문

目的探讨小儿以室管膜母细胞瘤和神经母细胞瘤成分为主的中枢神经系统原始神经外胚层肿瘤(PNET)的临床病理特点、免疫表型、诊断和鉴别诊断.方法回顾性复习4例以室管膜母细胞瘤和神经母细胞瘤成分为主的中枢神经系统PNET的临床资料、镜下形态及免疫表型特点,免疫组织化学采用EnVision法.结果 4例均为婴幼儿,年龄最小12个月,最大4岁;男3例,女1例;3例肿瘤位于大脑,1例位于脑干.显微镜下4例肿瘤均具有特征性的组织学改变,即同时具有室管膜母细胞瘤和神经母细胞瘤的特征,部分区域肿瘤细胞围绕中空的腔隙排列成真菊形团,也可伴血管周围假菊形团;部分区域在丰富的神经毡背景中可见大量原始未分化的神经上皮细胞.3例伴有神经胶质分化,显示胶质纤维酸性蛋白(GFAP)部分或灶性阳性;3例伴室管膜分化,显示上皮细胞膜抗原(EMA)部分阳性.4例中有3例伴有不同程度的坏死,1例伴沙砾体样钙化.免疫组织化学染色显示围成菊形团的肿瘤细胞和原始神经上皮细胞成分波形蛋白阳性,GFAP部分或灶性阳性,EMA部分阳性,突触素阴性;神经毡区域突触素阳性;Ki-67阳性指数20％～ 60％.结论以室管膜母细胞瘤和神经母细胞瘤成分为主的中枢神经系统PNET是发生于儿童尤其是婴幼儿的中枢神经系统胚胎性肿瘤,非常罕见且预后极差,其特征性的组织形态学表现、免疫组织化学表型及遗传学改变是与其他中枢神经系统肿瘤鉴别的关键.
목적 탐토소인이실관막모세포류화신경모세포류성분위주적중추신경계통원시신경외배층종류(PNET)적림상병리특점、면역표형、진단화감별진단.방법 회고성복습4례이실관막모세포류화신경모세포류성분위주적중추신경계통PNET적림상자료、경하형태급면역표형특점,면역조직화학채용EnVision법.결과 4례균위영유인,년령최소12개월,최대4세;남3례,녀1례;3례종류위우대뇌,1례위우뇌간.현미경하4례종류균구유특정성적조직학개변,즉동시구유실관막모세포류화신경모세포류적특정,부분구역종류세포위요중공적강극배렬성진국형단,야가반혈관주위가국형단;부분구역재봉부적신경전배경중가견대량원시미분화적신경상피세포.3례반유신경효질분화,현시효질섬유산성단백(GFAP)부분혹조성양성;3례반실관막분화,현시상피세포막항원(EMA)부분양성.4례중유3례반유불동정도적배사,1례반사력체양개화.면역조직화학염색현시위성국형단적종류세포화원시신경상피세포성분파형단백양성,GFAP부분혹조성양성,EMA부분양성,돌촉소음성;신경전구역돌촉소양성;Ki-67양성지수20％～ 60％.결론 이실관막모세포류화신경모세포류성분위주적중추신경계통PNET시발생우인동우기시영유인적중추신경계통배태성종류,비상한견차예후겁차,기특정성적조직형태학표현、면역조직화학표형급유전학개변시여기타중추신경계통종류감별적관건.
Objective To study clinicopathologic features,immunohistochemical profile,diagnosis and differential diagnosis of childhood central nervous system primitive neuroectodermal tumors (CNS PNETs) with the features of ependymoblastoma and neuroblastoma.Methods The clinical data,morphologic and immunohistochemical features were analyzed in 4 cases of pediatric CNS PNETs with features of ependymoblastoma and neuroblastoma.EnVision method immunohistochemistry was applied.Results Four patients including three boys and one girl presented at the age from 12 month to 4 years and three tumors located in cerebrum,one in brain stem.All tumors showed typical combined histological patterns of ependymoblastoma and neuroblastoma,demonstrating zones of true rosettes,occasional pseudovascular rosettes,and undifferentiated neuroepithelial cells in a prominent background of mature neuropils.There was focal expression of glial fibrillary acidic protein (GFAP) consistent with glial differentiation and epithelial membrane antigen (EMA) consistent with ependymal differentiation.Necrosis was seen in three cases and calcification was present in one case.Immunohistochemically,the rosettes and undifferentiated neuroepithelial cells were positive for vimentin,partially positive for GFAP and EMA but negative for synaptophysin.The tumor cells were also positive for synaptophysin in neuropils.The Ki-67 label index ranged from 20％ to 60％.Conclusions CNS PNETs with the features of ependymoblastoma and neuroblastoma is a rare tumor with poor prognosis.The tumor primarily occurs in childhood,especially infant and belongs to the family of embryonal tumors of the CNS.The morphologic,immunohistochemical and genetic features are important in differential diagnosis from other tumors of the CNS.