肾透明细胞肉瘤的临床病理及免疫表型特征

目的 探讨肾透明细胞肉瘤（clear cell sarcoma of the kidney,CCSK）的临床病理特点、免疫表型特征及鉴别诊断。方法 应用HE和免疫组化vimentin、bcl-2、desmin、S-100蛋白、CD99、CD34、CDll7、CK、EMA染色,观察2例CCSK的病理组织学形态,并复习文献。结果 镜下见瘤细胞为上皮样或短梭形,被分枝状纤维血管间质分隔成巢团状,部分区域见黏液样变性微囊肿和细胞外胶原玻璃样变类似骨样组织的硬化型等形态变异。免疫组化示：瘤细胞vimentin和bcl-2弥漫阳性,余为阴性。结论 CCSK是一种罕见的儿童期恶性肾肿瘤,诊断主要依靠组织病理学和免疫组化,熟悉其形态学变异有利于与其它类似病变如肾母细胞瘤、先天性中胚叶肾瘤、肾恶性横纹肌样瘤、原始神经外胚叶肿瘤等鉴别。     

上皮样恶性周围性神经鞘瘤临床病理分析

目的 探讨上皮样恶性周围性神经鞘瘤(epithelioid malignant peripheral nerye sheath tumor,EMPNST)的临床病理特征及鉴别诊断.方法 收集9例EMPNST的临床病理资料,行光镜和EnVision法免疫组化观察,并复习文献.结果 9例EMPNST,女性4例;年龄20～67岁,中位年龄37.5岁;病变主要位于四肢,上肢3例,下肢4例,右季肋部和咽隐窝各1例;>5 cm 7例,其中1例>10 cm;<5 cm 2例,平均6.2 cm,无包膜.深在型8例,浅在型1例,组织学,纯上皮样型5例,其中2例见节细胞样或横纹肌样瘤样区域,4例混合型伴有梭形细胞区.免疫表型S-100蛋白及NSE 9例均呈阳性反应,纯上皮样型5例S-100蛋白呈强阳性,4例混合型呈灶性阳性,8例PGP 9.5阳性,7例MBP阳性,5例EMA灶性或弱阳性,4例vimentin阳性,3例CD57灶性阳性,而HMB-45、desmin、CD34、CK阴性.结论 EMPNST是恶性周围性神经鞘瘤的一种少见亚型,形态学上缺乏特征性,易与其他软组织上皮样肿瘤混淆.S-100蛋白及PGP9.5阳性是诊断EMPNST有价值的指标,但缺乏特异性,因此诊断时必须结合临床、组织形态和免疫表型的结果,综合判断以免引起误诊.     

恶性外胚叶间叶瘤1例临床病理观察并文献复习

目的探讨恶性外胚叶间叶瘤的临床病理特征、诊断、鉴别诊断、治疗及预后。方法对1例右腰部皮下软组织恶性外胚叶间叶瘤进行病理形态学观察、免疫组化En Vision法染色,并复习相关文献。结果患儿3岁,肿块位于右腰部皮下,肿瘤由小圆细胞构成,可见两种类型细胞,一种是胞质略嗜酸性或嗜酸性细胞,部分呈横纹肌样,另一种是散在分布的胞质淡染细胞,呈小巢状、结节样分布。治疗以手术切除及化疗为主。免疫表型:嗜酸性及横纹肌样细胞成分中desmin、Myo D1、Myogenin均阳性。淡染的小圆细胞成分中NSE、S-100、Syn均阳性,两者均阳性有vimentin、CD56,Ki-67增殖指数约40%。结论恶性外胚叶间叶瘤临床极为罕见,常发生于儿童,可能起源于原始神经嵴组织或者是横纹肌肉瘤,其组织学具有多样性,确诊主要依靠临床病理形态学特征,综合治疗可改善预后。     

特殊类型周围神经肿瘤

目的：介绍特殊类型周围神经肿瘤的病理诊断。方法：收集外检和会诊中遇到的各种类型周围神经肿瘤进行回顾性分析，并作必要的免疫组化标记和鉴别诊断，报道９例罕见的特殊类型周围神经肿瘤。结果：９例中：上皮样恶性周围神经鞘膜瘤，恶性嵘螈瘤，黑色素性神经鞘瘤，婴儿黑色素性神经外胚叶瘤腺性神经纤维瘤，神经鞘粘液瘤，节细胞性神经母细胞瘤，恶性颗粒细胞瘤和透明细胞肉瘤各１例，结论：特殊类型周围神经肿瘤的形成与原始神经     

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.     

胸部原始神经外胚层瘤5例临床病理分析

目的 探讨胸部原始神经外胚层瘤(PNET)的临床病理特征、免疫学表型及其鉴别诊断。方法 对5例发生于胸部的PNET进行光镜观察和免疫组化研究。结果 5例PNET中4例为女性,1例男性,年龄12～52岁,平均27．0岁。肿瘤体积较大,平均直径11．4cm,无包膜或包膜不完整。镜下：肿瘤由小圆细胞构成,细胞胞质少,部分区域肿瘤细胞胞质透亮,可见Homer-Wwright菊形团和假菊形团。免疫表型：5例CD99(MIC2)、NSE阳性,4例synaptophysin阳性,3例vimentin阳性,2例S-100蛋白阳性。结论 胸部PNET是较少见的高度恶性软组织肿瘤,其诊断主要依据病理形态学特征及免疫组化标记。     

中枢神经系统非典型畸胎样/横纹肌样瘤临床病理及免疫表型特征

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、诊断及鉴别诊断。方法 对2例非典型畸胎样／横纹肌样瘤应用光镜行HE、网状纤维染色及免疫组织化学染色观察,并结合文献复习。结果 非典型畸胎样／横纹肌样瘤具有特征性的横纹肌样细胞,伴有不同程度的原始神经外胚叶、上皮和间质分化。肿瘤组织富于网状纤维,免疫组织化学标记示波形蛋白、CD99、上皮细胞膜抗原、细胞角蛋白、胶质纤维酸性蛋白、S-100蛋白、神经微丝蛋白、结蛋白、平滑肌肌动蛋白阳性,突触素、肌调节蛋白、胎盘碱性磷酸酶和HMB45阴性。结论 非典型畸胎样／横纹肌样瘤是中枢神经系统一种罕见的高度恶性肿瘤,好发于儿童,偶见于成人,呈异源性组织学和免疫组织化学表型。其诊断需与脑内其他多形性肿瘤鉴别。     

婴儿黑色素性神经外胚瘤三例临床病理学观察

目的:探讨婴儿黑色素性神经外胚瘤（MNTI）的临床病理特征、诊断及鉴别诊断。方法:回顾性分析3例MNTI的临床资料、组织形态、免疫组织化学及分子病理特点,并复习相关文献。结果:3例患者均为男婴,平均年龄3.6个月,发生在颌骨2例,下肢1例。组织学表现为肿瘤由小的神经母细胞样细胞和较大的含黑色素的上皮样细胞组成,间质为含...     

十二指肠神经节细胞性副神经节瘤3例临床病理分析

目的探讨神经节细胞性副神经节瘤(gangliocytic paraganglioma,GP)临床病理特征、诊断、鉴别诊断、治疗及预后。方法回顾性分析3例十二指肠GP的临床病理学特征、免疫表型、治疗及预后,并复习相关文献。结果3例患者内镜下均表现为十二指肠黏膜下病变,隆起于肠腔;组织学上肿瘤由3种不同类型的细胞混合组成:梭形的施万细胞、上皮样神经内分泌细胞和神经节样细胞。免疫表型:梭形细胞表达SOX-10、NF、NSE、CD56、Syn、S-100蛋白,上皮样细胞表达CKpan、CAM5.2、NSE、CD56、Syn、CgA、PR,神经节样细胞表达NSE、CD56、Syn、CgA、Calretinin、PR、NF。结论GP属于罕见的神经内分泌肿瘤,多发于十二指肠,内镜提示十二指肠黏膜下病变时应考虑该病可能,确诊依赖于组织病理学特征及免疫表型,治疗以内镜下切除和外科手术切除为主,患者预后较好。     

肾上腺外副神经节瘤临床病理分析

目的探讨肾上腺外副神经节瘤临床病理学特征、分类、良恶性组织学判断标准及鉴别诊断。方法对21例肾上腺外(副交感神经和交感神经)副神经节瘤进行光镜及免疫组化观察,同时跟踪随访并复习相关文献。结果肾上腺外副神经节瘤21例,男性10例、女性11例,年龄9～81岁,平均年龄46.5岁。肿瘤位于腹膜后10例,头颈部7例,纵隔、膀胱、精索及肾脏各1例。有功能者3例,无功能者18例。组织学上肿瘤主要由主细胞和支持细胞两种细胞组成,主细胞排列成巢状、束状、腺泡状或实体样结构,周围被支持细胞部分或完全包绕。1例诊断为恶性,瘤细胞异型性显著,核分裂象多见,并见灶性或融合性坏死和血管侵犯,伴局部淋巴结转移,余20例诊断为良性。免疫组化肿瘤细胞表达NSE、CgA、Syn、NF,而CK、EMA和SMA阴性;支持细胞S-100蛋白阳性。1例恶性副神经节瘤仅NSE阳性,CgA弱阳性。随访18例,其中1例1年后因多脏器转移而死亡,另有1例组织学诊断为良性者3年后肿物复发并侵犯邻近器官。结论肾上腺外副神经节瘤组织形态学改变与其生物学行为不一,临床上应长期随访。同时应与形态相似的肿瘤鉴别。     

An immunohistochemical study on the distribution of glial fibrillary acidic protein, S-100 protein, neuron-specific enolase, and neurofilament in medulloblastomas

In order to clarify the differentiation of medulloblastomas, the authors studied on the morphological features and immunohistochemical expression of glial fibrillary acidic protein (GFAP), S-100 protein, neuron-specific enolase (NSE), and neurofilament (NF) in 31 medulloblastomas. GFAP was detected only in a small number of tumor cells of 5 medulloblastomas; S-100 protein in both small tumor cells and some so-called spongioblastic cells in 16 medulloblastomas; NSE in the more abundant tumor cells and the matrix in 28 medulloblastomas; NF in a few tumor cells of 12 medulloblastomas; GFAP and NF in 2 medulloblastomas, but each of them in different tumor cells. These results suggest that medulloblastomas have a capacity of differentiation along neuronal and/or glial lines. The conventional morphological markers of differentiation in medulloblastomas such as spongioblastic cells and Homer Wright rosettes were not necessarily compatible with expression of immunohistochemical markers such as GFAP or NF. NSE and S-100 protein seem less valuable markers of differentiation because they were detected in both neuronal and glial elements. But NSE, which was observed in most medulloblastomas, might have a value as a marker for medulloblastomas.     

AN IMMUNOHISTOCHEMICAL STUDY ON THE DISTRIBUTION OF GLIAL FIBRILLARY ACIDIC PROTEIN, S-100 PROTEIN, NEURON-SPECIFIC ENOLASE, AND NEUROFILAMENT IN MEDULLOBLASTOMAS

In order to clarify the differentiation of medulloblastomas, the authors studied on the morphological features and immunohistochemical expression of glial flbrillary acidic protein (GFAP), S-100 protein, neuron-specific enolase (NSE), and neuroftlament (NF) in 31 medulloblastomas. GFAP was detected only in a small number of tumor cells of 5 medulloblastomas; S-100 protein in both small tumor cells and some so-called spongloblastic cells in 16 medulloblastomas; NSE in the more abundant tumor cells and the matrix in 28 medulloblastomas; NF in a few tumor cells of 12 medulloblastomas; GFAP and NF in 2 medulloblastomas, but each of them in different tumor cells. These results suggest that medulloblastomas have a capacity of differentiation along neuronal and/or glial lines. The conventional morphological markers of differentiation in medulloblastomas such as spongioblastic cells and Homer Wright rosettes were not necessarily compatible with expression of immunohistochemical markers such as GFAP or NF. NSE and S-100 protein seem less valuable markers of differentiation because they were detected in both neuronal and glial elements. But NSE, which was observed in most medulloblastomas, might have a value as a marker for medulloblastomas.     

嗅神经母细胞瘤的病理形态特点及其诊断和鉴别诊断

目的总结嗅神经母细胞瘤(ONB)的病理形态学特点,评价各种方法的诊断价值,并结合其他辅助检查确定与鼻腔鼻窦其他小细胞恶性肿瘤的鉴别诊断依据,提高ONB的病理诊断水平。方法收集ONB34例,鼻腔鼻窦的横纹肌肉瘤(RMS)11例、淋巴瘤76例。对病例基本情况进行了统计,对其活检标本进行了如下处理和观察：(1)常规HE染色、光镜观察。(2)免疫组织化学染色(两步聚合物检测PV6000法)及观察。ONB病例标记了神经元特异性烯醇化酶(NSE),嗜铬素A(CgA),S-100蛋白,细胞角蛋白(AEl／AE3),白细胞共同抗原(LCA),结蛋白,横纹肌肌动蛋白(S-actin)。RMS病例标记了结蛋白、肌球蛋白、S-actin及NSE、CgA及LCA。淋巴瘤病例标记了LCA,T细胞标记物(CD45RO),B细胞标记物(CD20)及NK细胞标记物(CD56)。另对10例NK／T细胞型淋巴瘤、9例B细胞型淋巴瘤标记了NSE、CgA、结蛋白及S-actin。(3)透射电镜观察。对ONB、RMS及淋巴瘤各4例进行了透射电镜观察。结果ONB与RMS及淋巴瘤发病均主要为中青年,临床局部表现有相似之处。ONB的形态学特征是：上皮团巢,血管袢网隔,小圆小梭形细胞及细胞核,腺样及鳞状上皮样细胞,菊形团,神经丝束,深染的细胞核,少、粉染或透明的胞质。免疫组织化学标记结果：NSE及CgA在小细胞100%表达,但在不同病例表达程度不同,S-100蛋白在神经丝束处100％表达,AEl／AE3在鳞状及腺样分化的细胞100％表达,LCA、结蛋白及S-actin均阴性。电镜下可见神经微丝及胞质内少数神经内分泌颗粒。RMS及淋巴瘤光镜下虽与ONB有相似之处,但也各有其形态特点,且免疫组织化学标记结果及电镜下超微结构特征也完全不同。结论ONB在光镜、免疫组织化学标记及电镜下有与RMS和淋巴瘤不同的特征性的形态变化特点,根据组织形态学特点即能够确立ONB的病理诊断,免疫组织化学标记可以进一步印证诊断,并在与RMS和淋巴瘤的鉴别诊断中起重要作用,电镜观察可作为ONB诊断及鉴别诊断中一项非必备的辅助检查。     

Cytologic diagnosis of a melanotic neuroectodermal tumor of infancy occurring in the cranial bones.

Melanotic neutroectodermal tumor of infancy (MNTI) is a rare, usually benign tumor commonly occurring in the maxilla. MNTIs at unusual sites like the cranium clinically mimic malignant small round cell tumors. Consequently, a correct preoperative cytologic diagnosis of MNTI at these sites helps in the surgical management of the patient. We report on a cytologically diagnosed case of MNTI in the frontotemporal region of the skull in an infant. Aspirates from the lesion were cellular, with a bimodal population mainly of small neuroblast-like cells admixed with a few large epithelioid cells with melanin granules. In the present case, following the cytologic diagnosis a wide local excision was carried out, and the histologic examination confirmed the cytologic diagnosis. Diagn. Cytopathol. 1999;21:280-283.     

Paragangliomas: assessment of prognosis by histologic, immunohistochemical, and ultrastructural techniques

To predict clinical outcome, we studied 42 paragangliomas from 37 patients by routine histology, immunohistochemistry, and electron microscopy. A panel of antisera to neuron-specific enolase (NSE), chromogranin, and met-enkephalin was used to identify chief (type I) cells, and S-100 protein and glial fibrillary acid protein (GFAP) sustentacular (type II) cells. The intensity of staining of type I cells and the density of type II cells were assessed semiquantitatively (0 to 4+) in a total of 38 tumors. A total of 23 of 24 low-grade tumors (solitary, multiple, or associated with other neoplasms; 95.8%) contained type II cells immunoreactive with either S-100 protein or GFAP, and all were positive when S-100 protein and GFAP were used in combination. Five of the nine intermediate-grade (recurrent and/or locally aggressive) tumors were identified as glomus jugulare tumors (GJT). Three intermediate-grade GJTs were devoid of GFAP-reactive type II cells and four GJTs were negative for S-100 protein. Type II cells were identified in only one of five high-grade (malignant) paragangliomas and that tumor contained vanishingly rare cells that were weakly S-100 protein positive but GFAP negative. Sustentacular cell density and chief cell staining intensity were both inversely related to tumor grade. The most sensitive chief cell marker was NSE (92.1%), followed by chromogranin (84.2%). The least sensitive (73.0%) and specific marker was met-enkephalin. Combinations of NSE or chromogranin with met-enkephalin identified chief cells in all cases. Electron microscopy identified neurosecretory granule-containing chief cells, but was of less value in delineating sustentacular cells because of their scarcity and the absence of specific features. By comparison, immunohistochemistry was superior in identifying sustentacular cells. The use of an immunohistochemical panel, in addition to routine histology, can confirm the diagnosis of a paraganglioma and can give an indication of the likely prognosis for a patient.     

Melanotic Neuroectodermal Tumor of Infancy Occurring in the Left Thigh of a 6-Month-Old Female Infant

We report an exceptional case of melanotic neuro-ectodermal tumor of infancy (MNTI) occurring in the soft tissue of the left thigh of a 6-month-old female infant. The tumor consisted mainly of small round cells (neuroblasts) arranged in cords and nests that were separated by broad fibrovascular areas. In addition, there were a few medium-sized tumor cells containing melanin pigment (melano-cytic cells) that in electron microscopy contained melanosomes as well as tonofilaments. Both tumor cell types immunostained for neuron-specific enolase (NSE) and vimentin, and the melanocytic cells reacted additionally with the antikeratin antibody KL1. Within the tumor stroma, neurofilament- and S-100-protein-positive neural cells and vimentin- and desmin-positive myofibroblasts were seen. Although densecore granules were demonstrated ultrastructurally in some neuroblasts, no immunostaining for chromogranin A, Leu-7, serotonin, or regulatory peptides was found. MNTI located in an extremity can be confused with malignant small round and blue cell tumors of childhood. The distinction between MNTI and these tumors is of clinical significance because MNTI, in most cases, is a benign tumor that, in contrast to the latter, can be cured by complete excision. The presence of a biphasic cell population with neuroblasts and melanocytic cells must be considered the main diagnostic feature of MNTI.     

S-100 protein and neuron specific enolase (NSE) expression by chordomas in relation to the composition of their stromal mucosubstances

The immunoreactivity of S-100 protein and neuron specific enolase (NSE.) was correlated with the composition of stromal glycosaminoglycans in chordomas and human notochords, in a combined histochemical and immunohistochemical study. We found that S-100 protein is negative in notochordal and chordoma cells in the absence of stromal mucosubstances or in the presence of small quantities of hyaluronic acid. The positivity of S-100 immunoreaction was found to be related to the presence of stromal glycosaminoglycans of the chondroitine sulfate A and C type. NSE. was found positive in cells presenting features of high metabolic activity. Consequently S-100 protein and NSE. immunoreactivity cannot have any cytogenetic implications, but they could be considered as markers indicating specific cell-stromal functional interactions.     

Esthesioneuroblastoma. Intermediate filaments, neuroendocrine, and tissue-specific antigens

Esthesioneuroblastoma (EN), a malignant neuroblastic tumor arising in the superior portion of the nasal cavity, shares histologic similarities with a number of primary malignant tumors that arise in this region, including rhabdomyosarcoma, lymphoepithelioma, and lymphoma. To establish an antigenic profile of EN as an aid in the differential diagnosis of these histologically similar nasal tumors, immunostaining was performed for the following intermediate filaments: keratin, neurofilament, glial fibrillary acidic protein, and desmin; neuron-specific enolase (NSE), S-100 protein, chromogranin, human common leukocyte antigen (HLE), epithelial membrane antigen (EMA), myoglobin, and carcinoembryonic antigen (CEA) on 21 primary nasal tumors: eight EN, five lymphoepitheliomas, two small cell carcinomas, three lymphomas, and three rhabdomyosarcomas. Keratin and CEA stained only the carcinomas (6/7+, 4/7+), respectively; desmin and myoglobin only rhabdomyosarcoma (3/3+, 1/3+); and HLE only lymphomas (3/3+). Chromogranin and neurofilament staining occurred exclusively in one case each of EN. S-100 and NSE commonly stained EN (5/8+, 6/8+), but carcinomas (1/7+, 2/7+) and rhabdomyosarcomas (1/3+, 3/3+) were also positive. Despite the apparent nonspecificity of NSE and S-100, an antigenic profile of positive NSE of S-100 staining with negative epithelial, muscle, and lymphoid antigens uniquely identified six of eight EN. Chromogranin and neurofilament positivity was further evidence for EN in two cases. This antigenic profile is a helpful adjunct in the diagnosis of EN and other primary malignant nasal tumors.     

Immunohistochemical study of S-100 protein and neuron specific enolase (NSE) in melanocytes and the related tumors

Normal human skin, malignant melanoma, nevocellular nevus, blue nevus, nevus of Ota and mongolian spot were immunohistochemically investigated on the localization of S-100 protein and neuron specific enolase (NSE). Tissues were fixed with buffered-formalin, processed with routine procedure and examined by the ABC technique. All cases of malignant melanoma and nevocellular nevus showed a relatively high amount of S-100 protein, but NSE was scantly demonstrated on about the half cases of these tumors. Blue nevus, nevus of Ota and mongolian spot revealed the presence of a small amount of S-100 protein and NSE on the half cases. Normal melanocytes were devoid of S-100 protein and NSE. Our results suggest that S-100 protein is the useful marker for diagnosis of malignant melanoma, and immunoreactive intensity for S-100 protein represents the differentiation of neural crest derived melanogenic cells and tumors.