原始神经外胚层肿瘤的临床研究近况

原始神经外胚层肿瘤是临床上罕见的高度恶性肿瘤。该肿瘤具有疴隋进展快、生存率低、预后差等特点。近年关于该肿瘤的研究报道逐年递增,其生物学特性、诊断标准、治疗及预后已成为关注的焦点。本文就其临床特点、病理诊断与鉴别诊断及治疗方法与预后等作一综述。     

原始神经外胚层肿瘤2例报告

原始神经外胚层肿瘤临床少见，可分为中枢性和外周性，本院各收治l例，现报告如下。     

胸壁原始神经外胚层肿瘤1例

资料患者,女性,13岁。因胸闷,活动后加重,伴右侧胸痛及盗汗3个月就诊。胸部B超及CT检查示右侧胸腔实性占位性病变。2002年12月21日行开胸术,术中见肿物位于右胸侧后胸壁,大小约12cm×9cm×7cm,质硬。前胸壁、肺表面、肺裂内及膈肌均可见肿块散在性分布,大小不一。无法切除肿瘤,改行肿瘤切检。病理诊断:原始神经外胚层瘤。术后1个月就诊于我院。胸部CT扫描示:右侧胸第八后肋骨质破坏,可见大量硬化骨形成,并向胸腔内突出;胸腔示软组织密度肿块影,其内散在少许斑点状瘤骨;右侧胸腔液性密度影,与软组织肿块融为一体;右肺中叶另见一圆形结节影,…     

阴茎外周原始神经外胚层肿瘤1例

患男，18岁，2000年7月发现阴茎头部有一直径约1cm的结节，质硬，无疼痛，未予重视。结节进行性增大，逐渐出现间断性出血、疼痛。2001年12月体检发现：阴茎头部结节直径2cm，触之易出血，两侧腹股沟触及多枚肿大淋巴结，质中，固定，无触痛。遂行部分阴茎切除 腹股沟淋巴结部分清扫术。术后病理：阴茎头部外周原始神经外胚层肿瘤，浸润海绵体组织，阴茎断端可见癌细胞，腹股沟淋巴结见肿瘤转移(3／3)。     

上颌窦原始神经外胚层肿瘤一例

患者女,15岁。因左面部麻木感,CT示左上颌窦肿物侵入筛窦,行肿物切除术,术中见左上颌窦上壁及外后壁大部分缺如。术后免疫组化显示,NSE(+),Syn灶状(+),S-100 (+),LCA(-),CD10(-),CD45Ro(-),CD20(-),Ki-67 (-),TdT(-),CK(-),CgA(-)。病理诊断:左上颌窦原     

外周型原始神经外胚层肿瘤的临床分析

目的　探讨外周型原始神经外胚层肿瘤（ｐＰＮＥＴ）的临床表现、综合治疗效果及预后。方法　回顾性分析３４例ｐＰＮＥＴ患者的临床资料,其中肿瘤位于骨组织１４例,胸壁６例,腹膜后和四肢软组织各３例,鼻腔鼻窦、椎管内和盆腔各２例,肾脏和肺内各１例。１８例患者（包括１例新辅助化疗）行完全切除术,９例行部分切除术,其余７例仅行活检术以确诊,所有患者均接受了放化疗。结果　截止于２０１１年６月,全组病例中有１９例死亡,１、２年的总生存率分别为８２％和４１％。１８例完全切除组的中位生存期和中位无疾病进展时间分别为２４个月和１２个月,１６例非完全切除组分别为１４个月和４个月,两组比较差异均有统计学意义（Ｐ＜０.０５）。结论　ｐＰＮＥＴ是一种易转移、易复发、侵袭性强的高度恶性肿瘤,采用合理的综合治疗方案可延长生存期。     

外周性原始神经外胚层肿瘤

神经外胚层肿瘤 (ＰＮＥＴ)临床上较为少见 ,我院1998年 4月～ 2 0 0 1年 7月共收治 4例 ,该 4例术前无1例明确诊断 ,均术后病理证实。 1例术后再行介入治疗 ,临床效果尚满意 .现结合临床表现、影像学检查 ,病理学特点、治疗体会及有关文献报告如下。临床资料本组ＰＮＥＴ患者 4例 ,年龄 2 2～ 4 6岁 ,原发于下颌骨 1例 ,软组织 1例 ,盆腔 2例。例 1　女性 ,2 6岁 ,左面部肿块半年 ,体检左面部约 6×7ｃｍ肿块 ,肤色正常 ,颈部未扪及肿大淋巴结 .Ｘ线平片左下颌骨溶骨性破坏 ,软组织见肿块影 ;ＣＴ左下颌骨升支骨破坏 ,软组织肿块 ,增强不规…     

中枢性原始神经外胚层肿瘤疑诊1例

1病例报告 中枢性原始神经外胚层肿瘤（primitive neuroectodefmal tumors，PNET）是一种罕见的高度恶性神经系统肿瘤。现将我院2006年发现1例报告如下：     

椎管内髓外原始神经外胚层肿瘤临床病理特点分析

目的 分析椎管内髓外原始神经外胚层肿瘤(PNET)临床病理特点.方法 11年余共收治5例椎管内髓外PNET患者,男3例,女2例,年龄11～48岁.全部原发于椎管内硬膜外,其中颈椎水平2例(C 5～C 7、C 5～T1),胸椎4例(T4～T6、T 6～T8、T4～T5、C 5～T1).主要临床症状表现种为5例肢体麻木、活动障碍,4例大小便障碍.5例均有病理证实.结果 3例患者病理行CD99检测,均为CD99(+).5例均先行手术切除后行术后放疗,其中4例并用术后化疗.5例治疗失败模式最先均为局部失败.5例患者生存时间(从治疗开始至死亡日期)分别为4.8、2.5、2.1、1.6、0.8年.结论 椎管内髓外PNET是高度恶性肿瘤,生存期短,首次失败多出现在局部,治疗中应寻求提高肿瘤局部控制以获得更长缓解时间方案.pPNET病情进展到远处转移后生存期短,提示需全身化疗,但缺乏有效化疗方案.正确区分中枢性或外周性PNET对临床治疗方案选择及预后具有指导意义.     

Congenital peripheral primitive neuroectodermal tumor: A case treated successfully with multimodality treatment

Neonatal tumors comprise less than two percent of childhood malignancies. Most are solid tumors, most common histologies being teratoma and neuroblastoma. We encountered a child who was detected to have a right arm mass on antenatal sonogram, which was diagnosed to be a primitive neuroectodermal tumor involving the triceps on fine needle aspiration cytology performed in the post-natal period. The child was successfully treated with multimodality treatment consisting of surgery, chemotherapy and radiotherapy. We also discuss briefly the problems associated with therapy in neonatal period. A review of all cases reported to have congenital Ewing’s sarcoma family of tumors is presented. Novel therapies are needed to improve efficacy and decrease the devastating side effects of treatment in this age group.     

Long-term relapse-free survival with supratentorial primitive neuroectodermal tumor in an adult: a case report

Summary Objective In adults, supratentorial primitive neuroectodermal tumor (sPNET) is a very rare undifferentiated embryoblastic neoplasm. Prognosis is worse in comparison to infratentorial medulloblastoma. Older age appears to be prognostically favorable. At present, 5-year survival rates remain below 50% in all age groups. Survival longer than 15 years in an adult has only been reported once so far. Case report In 1987, a 33-year-old-male patient presented with seizures following a six-month’s history of dizziness. CT- and MRI-scans revealed a right occipital tumor with moderate contrast enhancement. The tumor was completely removed. The original histological diagnosis was that of an undifferentiated sarcoma, malignant hemangioendothelioma, grade III. The patient was treated by CyVADIC chemotherapy and conventional radiation therapy (60 Gy). Admission for another reason in 2003 led to a re-evaluation of the original diagnosis. Microscopy revealed a malignant, highly cellular, poorly differentiated tumor with a desmoplastic component. Up to 20% of tumor nuclei were labeled for Ki-67. Almost all cells were stained for neuron specific enolase and NGF-Rp75, with neuronal and glial markers being present to a variable extent. According to these findings, the diagnosis was changed to a sPNET (WHO IV°). Other tumor entities were excluded by immunohistochemistry. Conclusions Although the prognosis of sPNET is reported to be poor, a small fraction with a rather benign biological and clinical behavior exists. Parameters determining long-term-survival in sPNET are not yet known. Whenever possible, complete surgical resection should be attempted followed by postoperative radiotherapy. The value of chemotherapy is an issue of continuous investigation. Supratentorial primitive neuroectodermal tumor is a very rare and highly malignant neoplasm in adults, carrying a poor prognosis. Complete surgical resection followed by radiotherapy proved to be essential for the outcome. We report the case of long-term survival at more than 17 years in an adult patient treated by surgery, postoperative radiation and chemotherapy.     

Melanotic primitive neuroectodermal (neuroepithelial) tumor of medulla

A 69-year-old man had a melanotic primitive neuroectodermal tumor of the medulla displaying various neuroepithelial elements including undifferentiated neuroepithelial cells forming Homer Wright's rosettes as well as neoplastic neuroglia resembling those seen in medulloblastoma. The neuroglial tumor cells were verified by demonstrating glial fibrillary acidic protein (GFAP) in the cells. These findings support the concept that the primitive neuroectodermal tumor and medulloblastoma are similar neoplasms. They have been described by such diverse names as melanotic medulloblastomas and progonomas. Review of 18 reported cases of intracranial melanotic primitive neuroectodermal tumors, including the present one, reveals that they have common pathologic features, are most frequent in the cerebellum and fourth ventricle, often metastasize widely within the neuraxis or even systemically, occur more frequently in children than adults, and strike males more often than females.     

儿童原始神经外胚叶肿瘤的临床特征(附4例临床报告及文献复习)

目的 探讨儿童大脑神经外胚叶肿瘤的临床特点及治疗方法。方法 对我院1999年1月至2003年1月收治的4例小儿大脑神经外胚叶肿瘤的临床资料进行回顾性分析。结果 4例病人1例位于额叶，2例位于顶叶，1例位于颞叶。OT显示为高或等密度影，MRI为短TI长T2信号，增强后均匀强化，肿瘤有明显界线。4例均在显微镜下全切，病理诊断：原始神经外胚叶肿瘤。术后均行放疗。术后8个月～18个月复发。结论 小儿大脑原始神经外胚叶肿瘤为高度恶性的肿瘤，预后差手术加放疗能延长生存时间。     

Supratentorial primitive neuroectodermal tumors: a Canadian pediatric brain tumor consortium report

Introduction Supratentorial primitive neuroectodermal tumors (SPNET) are rare tumors accounting for only 2.5% of childhood brain tumors. The purpose of this study was to describe the range of treatment regimens used to treat pediatric SPNET in Canada and to identify prognostic factors for overall survival in this population. Methods This study was a retrospective clinical analysis of SPNET patients treated over the last 10 years in Canada. A questionnaire was developed and distributed to all institutions in Canada who treat pediatric patients. Data were collected for patients <19 years of age who were diagnosed and treated for SPNET between 1995 and 2005. Results Data were obtained for 48 eligible patients. The stages of patients for whom complete data were provided were 80, 3, and 16% for metastatic stage M0, M1, and M2/3, respectively. The best responses to therapy included complete response in 44%, partial response in 8%, still on therapy in 2%, progressive disease in 31%, toxic death in 2%, and no therapy given in 12%. The 4-year survival was 37.7 ± 7.6%. The factors associated with an increase in survival were the use of radiation therapy and chemotherapy, and age >2 years. Overall survival was not affected by metastatic disease at diagnosis, tumor site, or degree of initial resection. Conclusions Survival is poor in SPNET patients but highest in those who received chemotherapy and radiation therapy. Further studies are needed to improve the survival of these patients.     

血尿表现的前列腺原始神经外胚层瘤1例并文献复习

目的:探讨前列腺原始神经外胚层瘤临床表现、病理学特点、诊断标准及治疗与预后,以提高对本病的诊疗水平。方法:回顾性分析我院前列腺原始神经外胚层瘤1例及总结文献检索所得前列腺PNET病例12例的临床表现、病理结果及治疗与预后。结果:病例中最短生存期为术后一个月死于肺转移。最长生存期为随访至12个月。我院病例术后4月复查盆腔肿瘤复发。结论:外周PNET十分罕见,前列腺PNET更罕见。对于排尿困难和血尿的青年患者如诊断不明确应考虑本病可能。超声、CT、MRI可发现该疾病但无特异性,病理可诊断。早期诊断、积极治疗对预后影响大,对于晚期患者化疗效果明显。     

原始神经外胚层肿瘤化疗相关因素的研究

目的评价原始神经外胚层肿瘤患者化疗的客观疗效,分析影响预后的因素。方法总结2000年3月～2008年9月我院收治的23例接受化疗的原始神经外胚层肿瘤患者的临床特点及化疗效果,用COX生存模型回顾性分析年龄、性别、是否手术、是否放疗、是否有远处转移、CD99的表达强度及是否接受新辅助化疗对其生存预后的影响。结果23例患者中女性11例,男性12例,中位年龄27岁,化疗后CR0例,PR11例,客观有效率55％,有效率与CD99表达强度不相关（P=0．843）,中位生存期为12个月。年龄（P=0．024）、远处转移（P=0．032）和放疗（P=0．044）对死亡风险有显著性影响,CD99表达强度在模型中P值为0．067。结论本组研究中原始神经外胚层肿瘤患者男女比例相当,多为年轻患者,化疗有效率较高,但生存期不长。接受放疗、年龄小、无远处转移、CD99表达强度低的患者死亡的风险小,CD99表达强度越高死亡的风险越大。     

Isolated cardiac peripheral primitive neuroectodermal tumor: A case report

Background: Peripheral primitive neuroectodermal tumor isolated in the heart, presenting as a primary cardiac tumor is considered as extremely rare.

Methods: We present a 53-year-old Chinese female with a cardiac tumor which was discovered by CT.

Results: A hypo-intense tumorous mass was shown extending from the left ventricle by Cardiac CT, and fused FDG positron emission tomography demonstrated no other abnormal FDG active lesions in the body. We performed a total resection surgery of the tumor subsequently and the patient recovered well and discharged from hospital 6 d after surgery.

Conclusion: The pathological diagnosis was primary cardiac peripheral primitive neuroectodermal tumor. No tumor recurrence was shown by echocardiography during the 24 months follow-up visits.     

Cerebral primitive neuroectodermal tumor in an adult,with spinal cord metastasis after 18-year dormancy

A cerebral primitive neuroectodermal tumor in a 40-year-old man recurred as a metastasis to the spinal cord after an 18-year dormant period. The metastatic tumor showed features of neuronal differentiation. The clinical course and pathologic findings are discussed.     

Differentiation of a primitive neuroectodermal tumor into a benign ganglioglioma

We describe a case of cerebellar neuroblastoma with histologic documentation of maturation into a ganglioglioma sixteen months later. Only chemotherapy was administered following the initial surgery and the child is well and disease-free three years following her final surgical procedure. The outcome of this patient supports previous hypotheses that the cerebellar neuroblastoma may be a less malignant tumor than its other primitive neuroectodermal posterior fossa counterparts. Furthermore, this case suggests a role for second-look surgery in the management of selected pediatric brain tumors.