颅内非典型畸胎瘤样/横纹肌样瘤1例报告并文献复习

目的探讨颅内非典型畸胎瘤样/横纹肌样瘤(AT/RT)的临床特点,诊断及治疗,提高对其认识水平。方法回顾性分析1例经病理和免疫组化诊断为颅内非典型畸胎瘤样/横纹肌样瘤患者的临床资料,并进行相关文献复习。结果患者主要表现头痛、头晕伴恶心,渐进性加重;MRI示病灶位于右侧岛叶。显微镜下手术切除肿瘤,免疫组化检查证实为颅内非典型畸胎瘤样/横纹肌样瘤。术后患者行放化疗,存活期12个月。结论颅内非典型畸胎瘤样/横纹肌样瘤高度恶性,极具侵袭性,生长迅速,预后极差,临床和影像学表现缺乏特异性;病理组织学改变是确诊的主要依据;采用以手术为主的个体化综合治疗是关键。     

颅内非典型畸胎瘤样-横纹肌样瘤3例及文献复习

目的总结颅内非典型畸胎瘤样-横纹肌样瘤(atypical teratoid-rhabdoid,AT-RT)的诊治经验。方法回顾性分析3例诊断为颅内AT-RT病人的临床资料,其中儿童2例,成人1例,总结其临床特点、神经影像学特点、手术治疗及预后。结果肿瘤全切除2例,近全切1例。术后放疗2例,随访6～13个月,3例病人目前均存活。结论颅内AT-RT是罕见的高度恶性肿瘤,总体预后较差,手术是本病主要的治疗手段。     

中枢神经系统非典型畸胎瘤样/横纹肌样瘤的诊断和治疗现状

中枢神经系统非典型畸胎瘤样/横纹肌样瘤好发于婴幼儿后颅窝,其细胞形态学特征独特,肿瘤组织含有横纹肌样细胞、原始神经外胚层、上皮及间叶多向分化成分,染色体22q11.2上INI1肿瘤抑制基因缺失或突变是其分子生物学特征,结合影像学表现可准确诊断。AT/RT恶性度高,预后极差。目前,多采取以手术切除为主的综合治疗方法,未来研究的重点在于确定INI1功能并利用其进行有效干预性治疗。     

儿童颅内非典型畸胎样/横纹肌样瘤2例并文献复习

目的探讨儿童颅内非典型畸胎样/横纹肌样瘤(AT/RT)诊断及治疗。方法回顾性分析2014年诊治的2例儿童颅内AT/RT的临床资料,并结合文献进行分析。结果 1例单发,手术全切,术后6个月复发,拒绝进一步放疗;1例多发,手术大部分切除,术后3 d死于癫痫持续状态。两例术后病理均为AT/RT。结论 AT/RT常见于低龄儿童,恶性程度高,术前影像学特点与髓母细胞瘤、原始神经外胚层肿瘤、室管膜瘤以及胶质瘤等相似,手术是重要治疗方法,但预后较差。     

儿童非典型畸胎瘤样/横纹肌样瘤15例诊治体会

目的总结儿童中枢神经系统非典型畸胎瘤样/横纹肌样瘤(atypical teratoid/rhabdoid tumor,AT/RT)的临床特征及预后,以提高大家对其的认识。方法通过回顾性分析我科近两年来收治的15例原发于儿童中枢神经系统AT/RT,详细分析其临床特征、影像学表现、病理学表现、手术治疗,并对其进行有效的随访,详细分析其预后。结果 15例患者均接受手术治疗,其中颅内13例,椎管内2例,手术全切除12例,次全切除3例,术后病理均证实为AT/RT。术后都得到有效随访,除1例椎管内AT/RT患者术后完成化疗后至今7个月仍未见肿瘤复发外,其余14例均在术后1个月至9个月不等死亡。结论 AT/RT好发于婴幼儿中枢神经系统,恶性度高,确诊有赖于病理,争取手术全切除结合术后放化疗是目前主要治疗方法,总体预后差。     

儿童中枢神经系统非典型畸胎样/横纹肌样瘤研究进展

非典型畸胎样/横纹肌样瘤（atypical teratoid/rhabdoid tumor,AT/RT）是一种罕见且高度恶性的儿童中枢神经系统胚胎性肿瘤,其组织形态多变、恶性程度高、临床进展迅速,患儿预后不佳。AT/RT的发病机制涉及染色体和基因的突变,特别是SMARCB 1基因功能的丧失。AT/RT的诊断主要依赖于组织学及免疫组化检测。目前关于AT/RT的治疗方案尚无统一标准,主要包括手术、化疗、放疗等多模式治疗以及新兴的靶向治疗和免疫治疗。尽管近年来对AT/RT的研究和临床试验有所进展,但患儿预后仍然不佳,仍需进一步研究以制定更有效的治疗策略,以提高患儿的预后。     

颅内非典型畸胎样横纹肌样瘤一例并文献复习

目的 探讨非典型畸胎样横纹肌样瘤(AT/RT)的临床特点、诊断及治疗方法,以提高对该疾病认识.方法 回顾性分析本科经治且病理证实的1例患者的临床资料,并总结分析国内外此类疾病相关报道及研究.结果 患者行手术治疗后术前剧烈头痛症状明显缓解,无手术相关并发症,出院后未行术后放化疗,随访患者5个月后死亡.结论 AT/RT比较罕见,该类患者预后差,复发率及死亡率高,术后辅助放化疗能改善患者预后.     

非典型畸胎样/横纹肌样瘤七例报告并文献复习

目的 探讨非典型畸胎样/横纹肌样瘤的流行病学特点、发病机制、治疗以及预后.方法 回顾性分析2007年9月至2008年9月于首都医科大学附属天坛医院神经外科手术治疗的7例患者临床、影像和病理资料以及术后随访情况.结果 本组7例均手术切除肿瘤,1例术后放疗,2例术后放疗和化疗.6例患者死亡,术后平均生存期不超过4个月.存活的1例患者术后10个月肿瘤已复发.结论 非典型畸胎样/横纹肌样瘤是颅内罕见的高度恶性肿瘤,尽管采取了综合治疗措施,患者预后极差.     

婴幼儿颅内非典型畸胎样/横纹肌样瘤的诊治体会(附四例报告)

总结4例婴幼儿颅内非典型畸胎样/横纹肌样瘤的诊疗经验。4例患儿中,男3例,女1例;年龄为9~34个月。肿瘤均为颅内巨大占位,最大径>5 cm;其中位于小脑幕上左侧颞岛叶1例,小脑幕下3例。肿瘤全切除3例,活组织检查术1例,术后均经病理确诊。4例患儿的随访时间为3~12个月,术后化疗1例,该患者目前仍存活但肿瘤复发;余3例拒绝化疗,于术后3~4个月死亡。婴幼儿颅内非典型畸胎样/横纹肌样瘤是相对罕见的高度恶性肿瘤,总体预后很差,手术加化疗是主要的治疗方法。     

成人鞍区非典型畸胎样/横纹肌样瘤一例

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2019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80%,仅提示鞍区恶性肿瘤;在术后第24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。     

中枢神经系统非典型畸胎样/横纹肌样瘤临床病理特征及INI1的表达(附一例报道)

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.     

Alpha-internexin expression in medulloblastomas and atypical teratoid-rhabdoid tumors

OBJECTIVE: To determine whether medulloblastomas and atypical teratoid/rhabdoid tumors express alpha-internexin, an intermediate filament protein that is expressed in normal neurons undergoing maturation and differentiation. MATERIALS AND METHODS: 28 medulloblastomas and 5 atypical teratoid/rhabdoid tumors were examined for the immunohistochemical expression of alpha-internexin, as well as the neuronal markers peripherin and synaptophysin, and glial fibrillary acidic protein. RESULTS: Overall, 21 of 28 medulloblastomas (75%) expressed alpha-internexin. More specifically, alpha-internexin expression was observed in 6 of 10 (60%) classic medulloblastomas, 12 of 14 (86%) desmoplastic medulloblastomas, 2 of 3 (67%) nodular medulloblastomas, and in one medullomyoblastoma. Similarly, 4 of 5 (80%) atypical teratoid/rhabdoid tumors expressed alpha-internexin. The extent of staining for alpha-internexin tended to be less than that of synaptophysin for both medulloblastomas (75% vs 93%) and atypical teratoid/rhabdoid tumors (80% vs 100%). In contrast to alpha-internexin, peripherin was expressed in only 4 medulloblastomas and one atypical teratoid/rhabdoid tumor. CONCLUSIONS: Alpha-internexin is expressed in the majority of medulloblastomas and atypical teratoid/rhabdoid tumors, indicating that these primitive tumors usually exhibit neuronal differentiation.     

Aggressive infantile embryonal tumors

Embryonal tumors are the most common brain tumors in infants less than 36 months. Histologically characterized as undifferentiated small, round cell tumors with divergent patterns of differentiation, these include medulloblastoma, the most common form of embryonal tumor, as well as supratentorial primitive neuroectodermal tumor, medulloepithelioma, ependymoblastoma, medullomyoblastoma, melanotic medulloblastoma, and atypical teratoid/rhabdoid tumor. All are similarly aggressive and have a tendency to disseminate throughout the central nervous system. Because of efforts to avoid craniospinal irradiation in an attempt to lessen treatment-related neurotoxicity, management of these tumors in infants is unique. Outcomes remain similarly poor among all the tumor types and, therefore, identification of specific molecular targets that have prognostic and therapeutic implications is crucial. The molecular and clinical aspects of the 3 most common aggressive infantile embryonal tumors, medulloblastoma, supratentorial primitive neuroectodermal tumor, and atypical teratoid/rhabdoid tumor, are the focus of this review.     

Epidermoid cysts of the velum interpositum

The cistern of the velum interpositum is a space located between the corpus callosum dorsally and the roof of the third ventricle ventrally. Lesions located within the velum interpositum are rare and include meningiomas, pilocytic astrocytomas, atypical teratoid/rhabdoid tumors and arachnoid cysts. Epidermoid cysts in this location have not been reported previously. We report the clinical and radiological features of two patients with epidermoid cysts located in the velum interpositum. The patients presented with gait difficulty and features of raised intracranial pressure and magnetic resonance imaging demonstrated large tumors in the velum interpositum with intensities suggestive of epidermoid cysts. There was ventral displacement of the internal cerebral veins and dorsal displacement of the corpus callosum in keeping with a mass in the velum interpositum. Tumors of the third ventricle displace the internal cerebral veins dorsally. A transcallosal approach was used in both patients to effectively excise the tumors.     

Tumor teratoide/rabdoide atípico con diferenciación tipo ganglioglioma: reporte de caso

BackgroundAtypical teratoide/rhabdoid tumor is a very rare and aggressive disease that primarily presents in pediatric patients. To the best of our knowledge, the initial presentation of this type of tumor with ganglioglioma-like differentiation is rare in the literature.Case reportWe present the case of a 9-month-old patient with left facial paralysis. An MRI revealed a lesion at the left cerebellopontine angle. Complete macroscopic surgical resection was performed. Histopathology and immunohistochemistry testing revealed an atypical teratoid/rhabdoid tumor with ganglioglioma-like differentiation.ConclusionsThis case report presents an atypical teratoid/rhabdoid tumor with initial gangligioma-like differentiation. This study adds to the data in the literature and promotes the study of this type of histogenesis. It lays a foundation for encouraging further studies to determine whether changes should be made to existing management protocols and, at the same time, determine whether there would be any variation with regard to disease prognosis.     

Atypical teratoid rhabdoid tumor involving the nasal cavities and anterior skull base

Rhabdoid tumors are a spectrum of neoplasias composed of cells which show rhabdoid morphology but are devoid of skeletal muscle differentiation. These tumors are characterized by inactivation of the INI1/SMARCB1 gene and they have been described in virtually every anatomical site, including the central nervous system (CNS) and sinonasal tract. Rhabdoid tumor of the CNS was named atypical teratoid rhabdoid tumor (ATRT) and it mainly affects children under the age of 3 years with supra‐ or infra‐tentorial location.Herein we report the first case of ATRT infiltrating the nasal cavities and skull base in an adolescent. Due to its unusual location, differential diagnosis was challenging and included several other entities such as sinonasal carcinoma or meningioma. Awareness that ATRT may infiltrate the nasal tract and knowledge of its clinico‐pathological, immunohistochemical and biomolecular features are essential for its distinction from other rhabdoid tumors which more frequently involve this anatomical site and for appropriate therapeutic management.