CAJ | 학술논문

目的探讨中枢神经系统非典型畸胎样/横纹肌样瘤的临床病理特征,评价INI1抗体在肿瘤诊断中的意义.方法对1例儿童中枢神经系统非典型畸胎样/横纹肌样瘤患者的临床资料及病理特征进行总结,应用免疫组化染色检测INI1蛋白表达情况,并结合文献进行回顾性分析.结果组织学显示肿瘤主要由两种成分构成,包括典型的横纹肌样细胞成分和原始间叶成分.免疫组化染色结果显示两种成分Vimentin、CD99均阳性表达,横纹肌样细胞SMA阳性表达、EMA局灶阳性表达,原始间叶成分SMA、EMA阴性表达.血管内皮细胞核INI1阳性表达,肿瘤细胞核INI1阴性表达.随访示患儿术后2月余死亡.结论中枢神经系统非典型畸胎样/横纹肌样瘤为高度侵袭性肿瘤,横纹肌样细胞是其重要的形态特征和鉴别诊断的主要依据.肿瘤出现两种成分表明肿瘤细胞有多方向分化的潜能,显示胚胎性肿瘤的特征.肿瘤细胞核INI1阴性表达提示肿瘤细胞有INI1基因突变或缺失,对明确诊断有重要参考价值.
목적 탐토중추신경계통비전형기태양/횡문기양류적림상병리특정,평개INI1항체재종류진단중적의의.방법 대1례인동중추신경계통비전형기태양/횡문기양류환자적림상자료급병리특정진행총결,응용면역조화염색검측INI1단백표체정황,병결합문헌진행회고성분석.결과 조직학현시종류주요유량충성분구성,포괄전형적횡문기양세포성분화원시간협성분.면역조화염색결과현시량충성분Vimentin、CD99균양성표체,횡문기양세포SMA양성표체、EMA국조양성표체,원시간협성분SMA、EMA음성표체.혈관내피세포핵INI1양성표체,종류세포핵INI1음성표체.수방시환인술후2월여사망.결론 중추신경계통비전형기태양/횡문기양류위고도침습성종류,횡문기양세포시기중요적형태특정화감별진단적주요의거.종류출현량충성분표명종류세포유다방향분화적잠능,현시배태성종류적특정.종류세포핵INI1음성표체제시종류세포유INI1기인돌변혹결실,대명학진단유중요삼고개치.
Objective To investigate the clinical and pathological features of pediatric CNS atypical teratoid/rhabdoid tumor(AT/RT)and evaluate the role of INI1 antibody on the differential diagnosis and prognosis of AT/RT.Methods The clinical data and pathological features of 12-year-old boy with AT/RT were concluded.The protein expression of INI1 was detected by immunohistochemistry;follow-up was performed and relative documents of that disease were compared;the above data were retrospectively analyzed.Results Mioroanatomy showed typical teratoid cells and primitive mesenchymal cells in the tumor.Both of these 2 tumor components displayed positive reactions of vimentin and CD99.The SMA and EMA positive expressions were noted in the teratoid cells.Immunohistochemical staining demonstrated that INI1 antibody was nuclear negative in tumor cells,but positive within endothelial cells of the blood.Follow-up information showed the patient was dead 2 months after the operation.Conclusions CNS atypical AT/RT is highly aggressive tumor.The appearance of rhabdoid cells is its important morphologic features and its main differential diagnosis evidence.Mesenchymal components and the various results of immunohistochemical staining indicate that AT/RT tumor cells,having the character of the embryonal tumors,have various differentiation potential.The expression of INI1 antibody suggests that a mutation or deletion in the INI1 gene occurs in the tumor,which has important value in diagnosing and differentiating the tumor.