成人鞍区非典型畸胎样_横纹肌样瘤一例.pdf

594J Clin Neurosurg,October 2023,Vol.20,No.5D0I:10.3969/j.issn.1672-7770.2023.05.023病例报告成人鞍区非典型畸胎样/横纹肌样瘤一例张义彪,徐敬斌，高亚峰，常奎，王鑫，张龙，成金民【摘要】目的总结成人鞍区非典型畸胎样/横纹肌样瘤（AT/RT)的临床及病理特征,提高该病的诊断和治疗水平。方法回顾性分析阜阳市第二人民医院神经外科2 0 19 年7 月收治的1例成年鞍区占位的手术及治疗过程。结果行经鼻蝶显微镜下全切除肿瘤,术后第4天出现头痛症状,经CT检查证实肿瘤在术后1周内复发且肿瘤体积明显大于术前。术后病理报告显示肿瘤Ki-67（+）,高达8 0%，仅提示鞍区恶性肿瘤；在术后第2 4天做出AT/RT（成人变异性）、INI-1缺失的病理诊断。结论成人鞍区AT/RT为神经外科罕见疾病，临床及影像检查均无特异性，具有恶性程度高、术后生存期短等特点，目前尚未引起国内神经外科同道及病理学专家重视。【关键词】非典型畸胎样/横纹肌样瘤；鞍区；Ki-67；INI-1【中图分类号】R739.41Adult sellar region atypical teratoid/rhabdoid tumors:a case report ZHANG Yibiao,XU Jingbin,GAO Yafeng,et al.Department of Neurosurgery,Second Peoples Hospital of Fuyang City,Fuyang 236015,ChinaAbstract:Objective To summarize the clinical and pathological features of atypical teratoid/rhabdomyoidtumors(AT/RT)in adult sellar region,and to improve the diagnosis and treatment of the disease.Methods Theoperation and treatment of a patient with sellar space occupying lesion admitted to Department of Neurosurgery,Second Peoples Hospital of Fuyang City in July 2019 was analyzed retrospectively.ResultsThe tumor wascompletely removed under a nasal transsphenoidal microscopic resection.The patient developed headache symptomsagain on the 4th day after the surgery.CT examination confirmed that the tumor recurred within one week after thesurgery and the tumor volume was significantly larger than that before the surgery.The postoperative pathology showeda tumor Ki-67(+),as high as 80%,indicating only malignant tumors in the sellar region.A pathological diagnosisof AT/RT(adult variability)and INI-1 deficiency was made on the 24th day afer surgery.Conclusions The AT/RT in adult sellar region are rare diseases in neurosurgery.The clinical and imaging examinations are not specific.They have high malignant degree and short postoperative survival time.At present,it is not under concern of domesticneurosurgery colleagues and pathology experts.Key words:atypical teratoid/rhabdomyoid tumors;sellar region;Ki-67;INI-1中枢神经系统非典型畸胎样/横纹肌样瘤（atypicalteratoid/rhabdoid tumor,AT/RT)是一种由原始神经外胚层细胞、肿瘤性上皮细胞及横纹肌样细胞等构成的中枢神经系统肿瘤，具有分化差、恶性程度极高的特点 。该病好发于儿童及婴幼儿，病灶多位于幕下，也可发病在大脑半球、脑室系统及椎管内，成人AT/RT罕见2 。2 0 19 年7 月阜阳市第二人民医院神经外科手术治疗1例鞍区占位成年女性患者，术后肿瘤在很短时间内复发,AT/RT（成人变异性）、INI-1缺失的病理诊断更是出人意料。术者通过“大医精诚”软件检索文献发现近30 年来共报告39 例成人鞍区AT/RT，主要集中在欧美及日本，中国仅在2 0 17 年报告了一例成人鞍区AT/RT3。由于本病发病率低,文献报告极少且大多为个案报道，尚未引起国内神经外科同道及病理学专家重视；而该疾病的恶性度又非常高，常在术后较短时间内复发,国内省级、作者单位：2 36 0 15阜阳，阜阳市第二人民医院神经外科【文献标志码】B【文章编号】16 7 2-7 7 7 0(2 0 2 3)0 5-0 59 4-0 4市级医院尚难以在一个正常周期内做出准确的病理诊断,即使在欧美发达国家也有过病理诊断不准确或误诊的情况4,导致放射治疗及化疗难以早期实施，也是该病目前的治疗现状及预后不佳的重要因素。本研究就成人鞍区AT/RT的临床及病理特点进行分析和总结,以期更多的神经外科同仁认识这种罕见疾病。1资料与方法1.1一般资料患者女，47 岁,既往体健,否认肿瘤家族史，因“反复头痛2 0 d,加重1d”于2 0 19 年7 月19 日人住阜阳市第二人民医院神经内科。入院时头痛症状较剧烈，难以忍受，神志嗜睡，精神差，无视力下降，无视野缺损。头颅CT(图1)检查示鞍区占位,肿瘤等密度，未见囊变及出血，鞍底骨质破坏,肿瘤侵入蝶窦。会诊后转人神经外科，进一步行垂体增强MRI图2）示，垂体窝明显扩大，外形饱满内见类圆形等T，长T，信号,约1.5cm1.6cm2.0 cm大小,边界清,增强后不均匀强化（鞍区内病灶明显临床神经外科杂志2 0 2 3年第2 0 卷第5期强化，蝶窦病灶部分不强化）。性激素六项大致正常（孕酮 35%）10 例，低Ki-67（K i-6 7 35%)9例,19 例没有提及;10 例高Ki-67患者已经死亡了7例,平均生存时间仅为4.6 个月,9 例低Ki-67已经死亡了7例,平均生存时间为2 0.6 个月，可以看出高Ki-67患者生存时间明显低于低Ki-67患者。本研究患者Ki-67高达8 0%，尽管采取了积极的术后放疗,生存时间仅46 d。因此,高Ki-67是患者预后不良的独立危险因素。最新的一项研究表明，对手术全切除患者，通过积极放化疗能够延缓肿瘤的复发,改善预后，常用的化疗药物包括阿霉素、环磷酰胺、长春新碱、顺铂，替莫唑胺以及甲氨蝶岭鞘内注射 4.18 。相信在不久的将来，随着神经外科同道、病理学专家对该疾病关注及分子病理学的发展，病例报告数会越来越多，治疗的方法也会多样化及个体化，有望延长AT/RT患者的生存时间。利益冲突：所有作者均声明不存在利益冲突。【参考 文献1 Rorke LB,Packer R,Biegel J.Central nervous system atypicalteratoid/rhabdoid tumors of infancy and childhood J.JNeurooncol,1995,24(1):21-28.(下转第6 0 0 页)600from basic mechanisms to novel therapeutic targets J.ArteriosclerThromb Vasc Biol,2020,40(4):885-900.7Vimala S,Krishnakumar M,Goyal A,et al.Perioperativecomplications and clinical outcomes in patients with congenitalcyanotic heart disease undergoing surgery for brain abscess J.JNeurosci Rural Pract,2020,11(3):375-380.8Whitlock RP,Sun JC,Fremes SE,et al.Antithrombotic andthrombolytic therapy for valvular disease:Antithrombotic Therapyand Prevention of Thrombosis,9th ed:American College 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