子宫原发Ewing肉瘤/外周原始神经外胚层肿瘤临床病理分析

目的 探讨罕见的子宫原发Ewing肉瘤/外周原始神经外胚层肿瘤(pPNET)的临床特点和病理学特征.方法 收集2例子宫原发pPNET,采用常规制片、HE染色,辅以免疫组化染色;结合文献资料,分析其临床病理特征、免疫表型、鉴别诊断、治疗及预后等.结果 2例病灶分别位于子宫肌层内和宫腔子宫内膜.肿瘤由幼稚深染的小圆形细胞组成,核圆形,染色质细腻,胞质稀少.免疫表型CD99、CD56均(+)、α-inhibin、Syn、CD10均(-).结论 子宫原发性pPNET非常罕见.通常表现为子宫内膜或卵巢肿物侵及子宫.几乎所有肿瘤表达CD99,可有神经标记物表达;遗传学90%以上有t(11;22)(q24;q12)染色体易位.目前除手术切除外,缺乏统一的化疗方案.需要更多的疗效和预后研究.     

外周原始神经外胚叶瘤/尤因肉瘤临床病理学

目的:研究原始神经外胚叶瘤(PNET)/尤因肉瘤的(EWS)的诊断、鉴别诊断.方法:41例病人按传统病理学分为3类,并用免疫组织化学两步法检测CD99、NSE、S-100蛋白、Syn、Vim、LCA、Des、Myo抗体的表达.结果:(1)41例病人有27例PNET,8例EWS和6例Askin瘤.(2)免疫表型:CD99有87.8%强阳性表达,NSE 53.7%,S-100蛋白22%,Syn 4.9%,vim 41.5%,统计结果显示CD 99强阳性表达与NSE、S-100蛋白、Syn、Vim强阳性表达差异有显著性(P<0.01).(3)PNET、EWS、Askin瘤对各种抗体的阳性表达差异无显著性(P>0.05).结论:(1)PNET、EWS、Askin瘤属同一肿瘤家族.(2)用组织学、免疫组织化学可与其他小圆细胞肿瘤进行鉴别诊断.     

外周原始神经外胚叶瘤和尤因肉瘤的新进展

外周原始神经外胚叶瘤 (ｐｅｒｉｐｈｅｒａｌｐｒｉｍｉｔｉｖｅｎｅｕｒｏｅｃｔｏ ｄｅｒｍａｌｔｕｍｏｒｓ,ｐＰＮＥＴ)和尤因肉瘤 (Ｅｗｉｎｇ’ｓｓａｒｃｏｍａ,ＥＷＳ)是软组织和骨常见的高度恶性肿瘤 ,两者关系密切 ,发生在儿童、青少年 ,有共同的神经外胚层起源 ,形态相似 ,都有ｔ(11;2 2 ) (ｑ2 4 ;ｑ12 )易位的染色体标记 ,属于ＰＮＥＴ/ＥＷＳ家族肿瘤。包括骨尤因肉瘤 (Ｅｗｉｎｇ’ｓｓａｒｃｏｍａｏｆｂｏｎｅ ,ＥＳＢ)、骨外尤因肉瘤 (ｅｘｔｒａｏｓｓｅｏｕｓＥｗｉｎｇ’ｓｓａｒｃｏｍａ ,ＥＯＥ)、外周神经上皮瘤 (…     

外周原始神经外胚叶瘤和尤因肉瘤染色体易位研究进展

染色体相互易位多见于骨和软组织肉瘤以及淋巴造血系统恶性肿瘤中．这些染色体易位导致多种分子水平上的异常．特别是融合基因的形成．被认为与肿瘤的发生有关。外周原始神经外胚叶瘤(peripheral primitive neuroectodermal tumors．pPNET)和尤因肉瘤(Ewing’s sarcoma．EWS)是软组织和骨常见的高度恶性肿瘤，两者关系密切，都有特征性     

外周原始神经外胚肿瘤／尤因肉瘤临床病理学

目的：研究原始神经外胚叶瘤（PNET）／尤因肉瘤的（EWS）的诊断,鉴别诊断。方法：41例病人按传统病理学分为3类,并用免疫组织化学两步法检测CD99,NSE,S－100蛋白,Syn,VIm,LCA,Des,Myo抗体的表达。结果：（1）41例病人有27例PNET,8例EWS和6例Askin瘤。（2）免疫表型,CD99有87．8％强阳性表达,NSE53．7％,S－100蛋白22％,Syn4.9%,vim41.5%,统计结果显示CD99强阳性表达与NSE,S-100蛋白,Syn,Vim强阳性表达差异有显著性（P＜0．01）。（3）,PNET,EWS,Askin瘤对各种抗体的阳性表达差异无显著性（P＞0．05）,结论：（1）PNET,EWS,Askin瘤属同一肿瘤家族,（2）用组织学,免疫组织化学可与其他小圆细胞肿瘤进行鉴别诊断。     

原发性外阴Ewing肉瘤/外周原始神经外胚层肿瘤

原发性骨尤文肉瘤／外周原始神经外胚层肿瘤（ES／pPNET）通常是一种高级别恶性肿瘤。原发性骨外ES／pPNET是一种罕见的软组织肿瘤,常见于胸壁、下肢和脊柱旁,偶有发生于骨盆和股部、腹膜后和上肢的病例报道。女性生殖道的骨外ES／pPNET十分罕见,仅有很少发生于外阴、阴道、子宫和卵巢的病例报道。外阴的ES／pPNETs常发生于年轻女性,临床上易误认为是良性病变。     

大脑和脊髓原始神经外胚叶肿瘤临床病理学

目的：探讨原发于大脑和脊髓原始神经外胚叶肿瘤的临床病理特征、组织学发生及生物学行为。方法：采用组织病理学、免疫组化标记和电镜观察对１１例原发于大脑及脊髓的原始神经外胚叶肿瘤进行研究。结果：组织学特征为弥漫原始的小细胞,并形成Ｈｏｍｅｒ－Ｗｒｉｇｈｔ菊形团和明显的纤维组织分隔成小叶。免疫组化标记：ＮＳＥ阳性,Ｓｙｎ阳性,部分瘤组织中散在ＧＦＡＰ阳性。电镜：瘤细胞胞浆内可见致密核心的分泌颗粒。结论：该     

外周原始神经外胚叶瘤和尤文氏肉瘤的分子病理学新进展

外周原始神经外胚叶瘤和尤文氏肉瘤软组织和骨常见的高度恶性的肿瘤 ,两者密切相关 ,均属于PNET/EWS家族肿瘤。PNET/EWS携带特异性融合基因或其他复合物 ,可根据特异性分子基因病变对此类肿瘤进行诊断和鉴别诊断     

原始神经外胚叶肿瘤

原始神经外胚叶肿瘤（ｐｒｉｍｉｔｉｖｅｎｅｕｒｏｅｃｔｏｄｅｒｍａｌｔｕｍｏｒｓ，ＰＮＥＴｓ）的研究资料已经不少。但对原始神经外胚叶肿瘤是不是一个独立的类型，它在中枢神经系统肿瘤的组织学分类中有什么特别的意义，各家意见不一。原始神经外胚叶肿瘤有中枢型...     

外阴及阴道Ewing肉瘤2例临床病理分析

目的探讨发生于外阴及阴道的Ewing肉瘤(Ewing’ssarcoma,EWS)临床病理特点、免疫表型及鉴别要点。方法对2例发生于外阴及阴道的EWS进行常规病理检查及免疫组化染色,观察其临床病理学特征,并复习相关文献。结果肿瘤分别发生于37岁及29岁女性,肿块长径为5～8cm。病理形态学显示:肿瘤组织由紧密呈片或小叶状分布的细胞组成。免疫表型:2例肿瘤细胞细胞膜均弥漫CD99着色,FLi-1核着色,vimentin染色阳性。结论发生于外阴及阴道的EWS是一种少见的软组织恶性小细胞性肿瘤,恶性度高,早期便可转移或复发,预后差。     

骨原发性原始神经外胚层瘤临床病理学研究

目的 探讨骨原发性原始神经外胚层瘤(PNET)临床病理特点和鉴别诊断要点及组织发生。方法 观察与分析12例骨原发性PNET的临床特征、组织学特征及SP法免疫组化标记，并对其中4例进行电镜观察。结果 PNET好发于男性青少年[9～29(平均17．7)岁]的长骨。组织学特征：肿瘤由大小一致的、原始的小细胞弥漫分布，纤维性条索将其分隔成不规则片块状，可形成Homer—Wright菊形团。免疫组化标记：CD99阳性，NSE、Syn及S-100蛋白部分阳性，Vim均阳性表达。电镜下瘤细胞形态较原始，可见线粒体、发育不良及神经分泌颗粒。结论 该肿瘤是一种少见的、好发生于男性青少年、组织学形态原始的、向神经外胚层分化的、具有高度侵袭性生长的、预后不良的原发性骨肿瘤。     

Primary vulvar Ewing's sarcoma/primitive neuroectodermal tumor in a post-menopausal woman: A case report

Ewing's sarcomas/peripheral primitive neuroectodermal tumors (ES/pPNETs) are high-grade malignant neoplasms rarely found outside the skeletal system. Only 12 cases of vulvar ES/pPNET have so far been reported, all involving children or women of child-bearing age. We describe the case of a 52-year-old woman who was admitted to our hospital for the local excision of a 4 cm vulvar mass, originally thought to be a Bartholin's gland cyst. It was subsequently found to consist of small round cells positive for anti-CD99 antibody, thus suggesting a diagnosis of ES/pPNET. The demonstration of EWSR1 gene translocations by means of fluorescent in situ hybridization excluded small-cell carcinoma, squamous cell carcinoma of the small type, Merkel cell carcinoma, and lymphoblastic lymphoma. After surgery, the patient received six cycles of polychemotherapy and radiotherapy; she is still alive and well after 1 year of follow-up. Our findings underline the crucial role of molecular biology techniques in the differential diagnosis of small round cell tumors in these unusual locations.     

An autopsy case of extraskeletal Ewing's sarcoma followed up for 24 years

A long-term (24 years) follow-up case of extraskeletal Ewing's sarcoma is reported. The light microscopic examination showed features hardly indistinguishable from Ewing's sarcoma of the bone, that is, the tumor cells were diffusely arranged and uniform in size and shape, and possessed glycogen in the cytoplasm. Homer-Wright rosettes were found only in the autopsy material. An immunohistochemical study using a neural marker (neuron-specific enolase) demonstrated positive staining in most tumor cells. An ultrastruc-tural study revealed intracytoplasmic glycogen particles and incomplete neural characters as follows: the cytoplasmic processes resembled neural processes without neurosecretory granules, microtubules or neurofilaments. These findings suggest that this case finally acquired an incomplete neural character with repeated recurrence. This tumor was diagnosed extraskeletal Ewing's sarcoma, but in future it may be categorized as primitive neuroectodermal tumor (PNET).     

Peripheral primitive neuroectodermal tumour and extra-osseous Ewing's sarcoma; a histological,immunohistochemical and DNA flow cytometric study

Although peripheral primitive neuroectodermal tumour (pPNET) and extra-osseous Ewing's sarcoma (EES) are thought to be closely related neoplasms, their clinical behaviour differs considerably. To determine the clinical relevance of the Schmidt classification scheme for differentiating pPNET and EES, 20 tumour specimens of poorly differentiated round cell tumours were evaluated. In addition, the diagnostic value of several neural markers and the prognostic value of quantitative morphological variables (DNA ploidy, S-phase fraction, and the mitotic activity) were assessed. Homer-Wright rosettes were present in 9 tumours. Neuron specific enolase (NSE) was expressed in 11 tumours, 8 of which expressed a second neural marker (CD57, S100, or neurofilament). According to the Schmidt classification, 11 pPNET and 5 EES were distinguished. HBA-71 was exclusively expressed in pPNET and EES. The remaining tumours were classified as sarcoma not otherwise specified (n=2), rhabdomyosarcoma (n=1), and desmoplastic tumour with divergent differentiation (n=1). EES611 patients fared significantly better than the pPNET patients (100% versus 42% 5-year survival). Neither DNA ploidy nor S-phase fraction assessed in 12 evaluative histograms (9 pPNET and 3 EES), nor mitotic activity yielded information of additional prognostic value. On the basis of this study and the Schmidt classification scheme, it can be concluded that if the diagnosis of EES and pPNET is based on light microscopy (Homer-Wright rosettes) and/or immunohistochemistry (at least two neural markers, i.e. NSE, S-100, CD57, and neurofilament), the classification provides important clinical information. Furthermore, positivity for HBA-71 is helpful in differentiating pPNET and EES from all other small round cell tumours.     

微囊型脑膜瘤与脑膜尤文肉瘤/外周原始神经外胚层肿瘤的MRI鉴别诊断

目的:探讨微囊型脑膜瘤与脑膜尤文肉瘤/外周原始神经外胚层肿瘤（pPNET）的MRI征象。方法:回顾性分析经病理证实的14例微囊型脑膜瘤和10例脑膜尤文肉瘤/pPNET患者的临床、影像学及病理资料,结合相关文献分析其MRI差异。结果:微囊型脑膜和脑膜尤文肉瘤/pPNET患者MRI特征在肿瘤形态、T2信号、强化特征、骨侵犯及远处转移方面有统计学意义（P<0.05）;而在T1信号、硬膜尾征和瘤周水肿无统计学意义（P>0.05）。结论:微囊型脑膜瘤和脑膜尤文肉瘤/pPNET影像表现有差异,术前精准鉴别诊断有助于改善临床决策和预测预后。     

外周性原始神经外胚层瘤的形态及免疫组化观察

目的 :观察外周型原始神经外胚层瘤 (pPNET)的临床病理及免疫组化特征。 方法 :对 10例 pPNET进行组织形态学观察及免疫组织化学和组织化学染色。结果 :形态学上表现为小圆细胞性呈大片状排列 ,其间可见纤维结缔组织间隔 ,瘤细胞呈非典型性菊形团样结构 ;免疫组化显示NSE呈 10 0 %表达 ,Syn、S 10 0蛋白和Vim分别为 80 % (8/ 10 )、6 0 % (6 / 10 )和6 6 7% (6 / 9)。结论 :根据临床表现、组织形态学特征及其免疫组化表型有助于 pPNET的诊断。     

Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review

The peripheral primitive neuroectodermal tumor/Ewing's sarcoma family tumor (pPNET/ESFT) group includes small round cell tumors of the bone, soft tissue, and nerve with morphological attributes of the germinal neuroepithelium. Peripheral PNETs/ESFTs also occur within the craniospinal vault, a region including the central nervous system, the meninges, and the cranial and spinal nerve roots. Gene rearrangements between the EWS gene on chromosome 22q12 and members of the ETS gene family are common in and specific to pPNETs/ESFTs. Another defining characteristic of pPNETs/ESFTs is their membranous expression of the MIC2 gene product. We describe 2 cases of pPNETs within the craniospinal vault. An intradural tumor arising from the nerve roots of the cauda equina was discovered in a 32-year-old man presenting with radiculopathic back pain and lower-extremity weakness. An intracranial pPNET that mimicked a meningioma was found in a 21-year-old man presenting with headache and visual disturbances. MIC2 gene product expression and EWS/ETS gene rearrangement were detected in both case patients. The literature with regard to pPNETs/ESFTs arising within the craniospinal vault is reviewed.