卵巢复发性播散性室管膜瘤1例并文献复习

目的探讨卵巢室管膜瘤的临床病理特征。方法对1例卵巢复发性、播散性室管膜瘤进行临床病理和免疫组化分析,并复习相关文献。结果患者42岁,体检发现左侧附件肿物6个月余入院。术中探查:盆腔及腹腔的腹膜表面散在结节状肿物种植,直径0.2～3 cm,子宫、双侧输卵管与盆壁粘连致密。镜检:肿瘤细胞丰富,细胞大小较一致,围绕血管,胞质突起朝向血管呈放射状,形成假菊形团样结构。免疫表型:GFAP、S-100、EMA、CK、vimentin、ER、PR阳性;病理诊断:原发性、复发性卵巢室管膜瘤。结论卵巢室管膜瘤是一种罕见的肿瘤,应该与卵巢上皮来源肿瘤、颗粒细胞瘤、未成熟畸胎瘤及神经内分泌癌相鉴别。     

成人小脑髓母细胞瘤MR成像和NSE表达水平

目的:探讨成人小脑髓母细胞瘤的MRI表现及神经元特异性烯醇化酶(Neuron-Specific Enolase,NSE)特点。方法:对17例经手术病理证实的成人小脑髓母细胞瘤的MR表现进行分析。免疫组化法检测肿瘤组织中NSE表达。ELISA试剂盒检测血清NSE水平。结果 :髓母细胞瘤均位于小脑半球,其中右侧11例,左侧6例,部分累及小脑蚓部,肿瘤形状多不规则,小脑皮髓质同时受累,实质部分多分布性,10例为男性,发病年龄最大者为64岁。肿瘤实性部分与小脑灰质比较,T1WI为略低信号,T2WI为等或稍高信号。髓母NSE表达水平和强度显著高于正常人脑组织细胞瘤(P<0.01),17例髓母细胞瘤中NSE大部分呈强阳性表达。病理学显示光学显微镜下组织是原始的、未分化的肿瘤细胞,核梭形,形成许多菊形团瘤细胞。部分组织体积较小,向髓母细胞分化。局部分化为神经节细胞。结论:成人小脑髓母细胞瘤的MRI表现有一定的特征性,能够与其他小脑肿瘤相鉴别。NSE可作为小脑髓母细胞瘤的神经损伤指标。     

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。     

伴菊形团形成的胶质神经元肿瘤5例临床病理分析

目的探讨伴菊形团形成的胶质神经元肿瘤(rosette-forming glioneuronal tumour,RGNT)的临床病理学特征。方法收集南京医科大学第一附属医院病理科2014年11月~2018年7月诊治的5例RGNT,行HE、免疫组化染色以及分子检测,并复习相关文献。结果5例均可见大小一致的神经细胞菊形团和(或)假菊形团结构,神经细胞核圆形,核仁不明显,胞质少,胞突纤细。例1、2、3可见胶质区呈毛细胞型星形细胞瘤样形态,其中例2、3见透明玻璃变的血管壁;例4部分胶质区可见少突胶质细胞瘤样形态;例4可见复杂的肾小球样血管,但细胞无明显异型性,胞核级别低,核分裂未见,无坏死。免疫表型:5例Syn在菊形团神经毡处均阳性,菊形团神经细胞Olig-2、S-100和ATRX均阳性,2例部分神经细胞NeuN阳性;5例胶质区GFAP、Olig-2和ATRX均阳性,4例S-100蛋白阳性;5例IDH1均阴性;Ki-67增殖指数<2%,其中例4球样血管增生区Ki-67增殖指数约10%。4例行PIK3CA分子检测,其中1例9号外显子(p.E545K)突变。结论RGNT是一种生长缓慢、罕见的肿瘤,有独特的组织形态,偶有恶变,目前以手术完整切除为主要治疗方法,但同时警惕潜在恶变危险,术后密切随访。     

伴脂肪瘤分化室管膜瘤1例临床病理分析

目的：探讨伴有脂肪瘤分化室管膜瘤的临床病理学特征。方法对1例伴有脂肪瘤分化室管膜瘤行免疫组化SP法染色、PAS染色及网状纤维染色,并复习相关文献。结果镜下见肿瘤组织中除具有典型室管膜瘤结构和血管周围假菊形团外,还有多少不等、成片或散在的脂肪细胞。免疫表型：S-100、GFAP、EMA广泛强阳性,CK、NF均阴性。 Ki-67增殖指数较低(<2%),部分可达20%以上。特殊染色：PAS染色脂肪样细胞阴性,脂肪染色阳性。电镜下可见室管膜细胞典型结构。结论伴有脂肪瘤分化室管膜瘤在室管膜瘤结构基础上可见大量脂肪细胞,需与黄色瘤型室管膜瘤及伴有脂肪分化的其它颅内肿瘤鉴别。光镜观察结合免疫表型、特殊染色可资鉴别。     

RELA融合基因阳性室管膜瘤11例临床病理分析

目的探讨RELA融合基因阳性室管膜瘤的临床病理学特征。方法回顾性分析11例RELA融合基因阳性室管膜瘤的临床资料、影像学特点、病理学特征和免疫表型,并复习相关文献。结果 11例RELA融合基因阳性室管膜瘤均位于幕上,男性6例、女性5例,发病年龄3～56岁,平均27岁。影像学示幕上占位性病变。镜下见分支状毛细血管网和真/假菊形团结构。免疫表型:瘤细胞GFAP、L1CAM、Cyclin D1均呈弥漫阳性,EMA呈核旁点状阳性,多数病例表达nestin,Olig-2均阴性。结论RELA融合基因阳性室管膜瘤好发于年轻人的幕上,具有独特的免疫表型和基因表型,预后较差,需进行诊断与鉴别诊断。     

松果体细胞瘤8例临床病理特征

目的探讨松果体细胞瘤的临床病理特征。方法分析8例松果体细胞瘤的临床资料、组织病理学特点和免疫表型变化,按WHO(2007)神经系统肿瘤分类进行组织学分型。结果患者年龄30~54岁,平均42.1岁,临床主要表现为头昏、头痛、视力下降。组织学以肿瘤组织被富含血管的结缔组织分隔成小叶状为特征。肿瘤细胞中等密度,小至中等大小,质嗜伊红染,核圆或椭圆,染色质细,并见松果体细胞瘤性菊形团结构。免疫组化显示肿瘤细胞表达Syn和NSE,而GFAP呈灶性表达或阴性。Ki-67增殖细胞指数为1%~2%。结论松果体细胞瘤极少见,病理诊断主要依据于组织学形态和免疫组织化学标记,但需要与松果体母细胞瘤、中分化松果体实质细胞肿瘤、生殖细胞瘤和松果体区乳头状瘤鉴别。     

室管膜瘤伴脂肪瘤分化2例并临床病理分析

目的探讨幕上脑实质室管膜瘤伴脂肪瘤分化的临床病理特点。方法分析2例幕上脑实质室管膜瘤伴脂肪瘤分化患者的临床、影像和病理资料,并复习相关文献。结果2例患者临床表现均以神经功能障碍为主,头颅MRI示幕上脑实质囊实性肿物。光镜下肿瘤细胞呈巢、片状散在分布于脂肪组织内,可见假菊形团样结构、胞质空泡样肿瘤细胞和瘤巨细胞。免疫表型:肿瘤细胞GFAP、EMA、S-100和vimentin均阳性,Syn、CgA、NF、Neu N、Olig-2、SMA、desmin、Myo D1和Myogenin均阴性。2例均行开颅病损切除术,分别随访17、26个月,无复发。结论幕上脑实质室管膜瘤伴脂肪瘤分化需与其他脑肿瘤鉴别,诊断依赖典型组织形态和免疫组化标记。     

伴有性索样结构的子宫平滑肌瘤1例临床病理分析

目的探讨罕见的伴有性索样结构的子宫平滑肌瘤(uterine leiomyoma with sex cord-like pattern,ULMSC)的病理特征、诊断及鉴别诊断。方法对1例ULMSC进行病理学和免疫组化SP法染色观察,并复习相关文献。结果患者52岁,发现子宫肌瘤4年。大体检查肿瘤位于浆膜下,切面灰白色,细腻、均质,漩涡状结构不明显。光镜下瘤组织呈巢团状、梁索状和腺样排列,部分区域可见成熟的肿瘤性平滑肌成分,两种成分之间有移行。有趣的是,瘤组织内局部可见多量所谓的星爆结构,类似于伴巨菊形团的玻璃样变梭形细胞肿瘤中所见到的巨菊形团,肿瘤细胞体积较小,胞质稀少,上皮样,边界不清,核卵圆形或不规则,均匀一致,核分裂象少见。间质为增生的纤维组织。免疫组织化学染色:肿瘤细胞呈actin、SMA及calponin等平滑肌标记弥漫强阳性,CD10和desmin局灶(+);vimentin弱阳性;calretinin少许散在阳性,而CKpan、EMA、α-inhinbin、CD99、mela-nA、CD56、S-100、bcl-2和ER均(-)。Ki-67增殖指数小于5%。结论子宫平滑肌瘤中出现广泛的性索样结构极罕见,可能是子宫平滑肌肿瘤的一种非常罕见类型,病理诊断时应与子宫性索样肿瘤、混合性子宫内膜间质-平滑肌肿瘤和上皮样平滑肌瘤等肿瘤鉴别。     

神经母细胞瘤样上皮样神经鞘瘤

病例简介 :患者女 ,2 8岁。 5年前发现双侧上下肢多发性皮下结节 ,共 7枚。结节可活动 ,表面皮肤无色素沉着 ,患者无其他不适。其中位于右大腿的 1枚最大 ,遂取活检。病理检查 :肿瘤境界清楚、有完整包膜 ,切面实性、灰白色 ,直径 2ｃｍ。镜下观察 :肿瘤形成较大的菊形团样结构。菊形团的中央由胶原原纤维形成轴心 ,瘤细胞分布于周围(图 1)。瘤细胞有 2种形态 ,一部分为椭圆形和梭形 ,胞质较图 1　 肿瘤细胞小而圆 ,形成菊形团样结构　ＨＥ× 2 0 0少 ,围绕轴心排列成几层。而菊形团周边部分的瘤细胞则往往核深染 ,核轻度异型性 ,富于胞质 ,…     

Congenital monoblastic leukemia with 9;11 translocation in monozygotic twins : a case report.

We report an autopsy case of congenital monoblastic leukemia that developed in monozygotic twins. The twin presented with progressive hepatosplenomegaly at 4 weeks after birth. One twin died of massive bleeding and hypovolemic shock before the treatment started. At autopsy, the liver was diffusely enlarged and showed a diffuse whitish discoloration except for the subcapsular and perivenular areas. Microscopic examination disclosed infiltration of histiocyte-like atypical cells along the sinusoids and portal areas of the liver. Spleen, lymph nodes and choroid plexus were also infiltrated by the tumor cells. However, bone marrow involvement of the tumor was minimal although multifocal. On immunohistochemical staining, these atypical cells were reactive for CD68 (PGM-1) and lysozyme, suggesting that the tumor cells might have been derived from mono- histiocyte. Cytogenetic study revealed 9;11 translocation, which is frequently associated with acute monoblastic leukemia. To the best of our knowledge, this is the first report of congenital monoblastic leukemia of monozygotic twins in Korea.     

ADRENOCORTICAL CARCINOMA IN INFANCY

A case of adrenocortical carcinoma associated with congenital heart defect in a 6-month-old Japanese girl is reported. A fist-sized tumor was incidentally noted in the right hypochondrium upon admission for cardiac surgery. No clinical endocrinopathy was evident in this case. The resected tumor was encapsulated with smooth surface and no invasion to adjacent tissues or organs was observed. Histologically, the tumor was composed of small cells with granular or clear cytoplasm, and occasional giant cells with single or multiple nuclei. By electron microscopy, the tumor cells showed various nuclear contours with distinct nucleoli and had a moderate amount of cytoplasm containing abundant rough endoplasmic reticulum and mitochondria with variable-sized electron-dense granules. Intercellular desmosome-llke junctions were observed in some tumor cells. Immunohistochemlcally, the tumor cells contained granules positive for estriol, progesterone and Cortisol. These morphological findings including electron microscopic features suggested that the tumor cells had a malignant character.     

Adrenocortical carcinoma in infancy. Report of a case with immunohistochemical and ultrastructural studies

A case of adrenocortical carcinoma associated with congenital heart defect in a 6-month-old Japanese girl is reported. A fist-sized tumor was incidentally noted in the right hypochondrium upon admission for cardiac surgery. No clinical endocrinopathy was evident in this case. The resected tumor was encapsulated with smooth surface and no invasion to adjacent tissues or organs was observed. Histologically, the tumor was composed of small cells with granular or clear cytoplasm, and occasional giant cells with single or multiple nuclei. By electron microscopy, the tumor cells showed various nuclear contours with distinct nucleoli and had a moderate amount of cytoplasm containing abundant rough endoplasmic reticulum and mitochondria with variable-sized electron-dense granules. Intercellular desmosome-like junctions were observed in some tumor cells. Immunohistochemically, the tumor cells contained granules positive for estriol, progesterone and cortisol. These morphological findings including electron microscopic features suggested that the tumor cells had a malignant character.     

Infantile hemangioendothelioma of heterotopic intrathoracic liver associated with diaphragmatic hernia

An autopsy of a six-hour-old term neonate, who died during surgery for repair of a left diaphragmatic hernia, revealed an infantile hemangioendothelioma type I arising in a heterotopic lobe of liver in the left thorax. The upper pole of the tumor was attached by fibrovascular tissue to the lower lobe of the left hypoplastic lung. A pedicle attached to the lower pole of the heterotopic liver pierced through the diaphragm to the left lobe of the normal liver. This case is an example of an unusual association of congenital malformation and putative neoplasm.     

Ependymoblastoma: Dear,Damned, Distracting Diagnosis,Farewell!

Ependymoblastoma is a diagnostic label that has been applied to a variety of rare central nervous system (CNS) tumors over the last eight decades. Consequently, there is uncertainty about whether such an entity exists and what its characteristic features might be. The current study, based on 14 cases from our institutional archives and identified by the search terms “ependymoblastoma,”“ependymoblastomatous,”“ependymoblastic” or “PNET with ependymal differentiation,” aimed to test the hypothesis that the ependymoblastoma is a distinct and recognizable entity. Ependymoblastic rosettes are a key diagnostic feature and were present in 11/14 (79%) tumors, eight (73%) of which were embryonal tumors with abundant areas of neuropil‐like differentiation. Three other cases showed rare ependymoblastic rosettes in the histopathological setting of a typical primitive neuroectodermal tumor (PNET), medulloblastoma (MB) or atypical teratoid/rhabdoid tumor (AT/RT). The remaining cases were all embryonal tumors with structures that mimicked ependymoblastic rosettes. Our results indicate that ependymoblastic rosettes are most frequently encountered in embryonal tumors with abundant neuropil and less frequently in other CNS embryonal neoplasms, including PNET, MB and AT/RT. We believe that ependymoblastoma as a diagnosis is neither precise nor specific and that it is time once and for all to retire this diagnosis from the lexicon of neuropathology.     

Pineocytoma Observation of an Autopsy Case by Electron Microscopy and Cell Markers

An autopsy case of a 69?year-old female with pineocytoma was reported. The tumor showed neuronal differentiations, which were confirmed not only by light microscopy and electron microscopy, but also by a cell marker of neuron-specific enolase. In addition, existence of astrocytes in the tumor which distributed sparsely was ascertained by electron microscopy and cell markers such as S?100 protein and glial fibrillary acidic protein. Acta pathol. jpn. 34: 911～918, 1984.     

Cushing's syndrome produced by a bronchial carcinoid tumor

A case of bronchial carcinoid tumor with ectopic corticotropin production is described. Cushing's syndrome refractory to therapy, including pituitary irradiation and hypophysectomy, had been present for 12 years before the neoplasm was discovered at autopsy. The tumor was a small nodule localized in the pulmonary parenchyma and an adjacent hilar lymph node. Corticotropin, serotonin, and neuron-specific enolase were localized in the neoplasm by immunoperoxidase staining.     

Primary fibrosarcoma of the liver. Immunohistochemical and electron microscopic studies

An autopsy case of primary fibrosarcoma occurring in the liver of a 75-year-old female is presented. The tumor, arising from the lateral upper portion of the right lobe, measured 14 cm in greatest dimension. Light microscopy of the tumor revealed homogeneous, spindle-shaped cells with abundant collagen fibers showing a classic herring-bone pattern. Immunoreactive vimentin was found in the tumor cells. Electron microscopically, the tumor cells were rich in rough endoplasmic reticulum without a basement membrane, and were surrounded by large amounts of collagen fibers. The fibroblastic character of the tumor cells was suggested by light and electron microscopy. This may be the first reported case of primary hepatic fibrosarcoma examined by immunohistochemistry and electron microscopy.     

Quadricuspid aortic valve

A rare case of a quadricuspid aortic valve discovered incidentally at autopsy is described. A shallow raphe joined the supernumerary and adjacent cusp, possibly representing early fusion of the commissures. There was no symptomatic hemodynamic abnormality. Other than a probe-patent foramen ovale, no congenital anomalies were present. This is only the sixth example of a quadricuspid aortic valve with a raphe reported in the English language literature.     

Primary Fibrosarcoma of the Liver Immunohistochemical and Electron Microscopic Studies

An autopsy case of primary fibrosarcoma occurring in the liver of a 75-year old female is presented. The tumor, arising from the lateral upper portion of the right lobe, measured 14 cm in greatest dimension. Light microscopy of the tumor revealed homogeneous, spindle-shaped cells with abundant collagen fibers showing a classic herringbone pattern. Immunoreactive vimentin was found in the tumor cells. Electron microscopically, the tumor cells were rich in rough endoplasmic reticulum without a basement membrane, and were surrounded by large amounts of collagen fibers. The fibroblastic character of the tumor cells was suggested by light and electron microscopy. This may be the first reported case of primary hepatic fibrosarcoma examined by immunohistochemistry and electron microscopy. Acta Pathol Jpn 39: 814 820, 1989.