原发性颅内绒毛膜癌1例并文献复习

目的：探讨原发性颅内绒毛膜癌的临床病理学特征。方法回顾性分析1例原发性颅内绒毛膜癌的临床病理学及免疫表型特征，并复习相关文献。结果原发性颅内绒毛膜癌的组织学改变与发生于性腺(睾丸和卵巢)的绒毛膜癌以及与妊娠相关的绒毛膜癌组织学表现相似。免疫表型：肿瘤细胞 PLAP、CK ( AE1/AE3)和β-HCG 均阳性， c-Kit 和OCT3/4均阴性。结论原发性颅内绒毛膜癌属于性腺外恶性非生殖细胞瘤性生殖细胞肿瘤，极其罕见。诊断必需排除性腺原发病灶以及转移性妊娠相关的绒毛膜癌。血清绒毛膜促性腺激素增高有助于诊断。因治疗原则和预后不同，应排除性腺和滋养层细胞来源的转移性绒毛膜癌，此外，还需与颅内其它组织学类型的生殖细胞肿瘤鉴别，免疫组化可辅助诊断。绒毛膜癌对放、化疗不敏感，预后极差。     

肺梭形细胞横纹肌肉瘤1例并文献复习

目的探讨成人梭形细胞横纹肌肉瘤(spindle cell rhabdomyosarcoma,SCRM)的临床病理学特征。方法回顾性分析1例肺内SCRM的临床病理学与免疫表型特征,并复习相关文献。结果患者男性,72岁,因咳嗽、胸闷2个月入院,胸部CT检查示右肺上叶见一巨大软组织肿块影。镜检:肿瘤无包膜,呈不规则束、片状排列,局部呈巢状结构,间质纤维组织增生。瘤细胞小圆形、梭形或上皮样,胞质稀少,胞核深染、染色质细颗粒状,部分可见核仁,核分裂象达25个/10 HPF,局部可见横纹肌母细胞。免疫表型:vimentin、desmin、Myogenin、CD56、CD99均阳性(阳性细胞数>50%),CK(AE1/AE3)、CK7、Syn、CgA、CD45、TTF-1、MyoD1、NSE、BCL-2、S-100蛋白均阴性,Ki-67增殖指数约60%。结论肺成人原发性SCRM临床罕见,组织学形态多样,预后较差,需与肺小细胞癌、滑膜肉瘤、淋巴瘤等鉴别。     

滤泡性树突状细胞肉瘤临床病理观察

目的探讨滤泡性树突状细胞肉瘤的临床病理特点及免疫表型,提高对该肿瘤的认识和诊断水平。方法通过光镜、电镜和免疫组织化学染色[EnVision法,所选用抗体为：CK（AE1／AE3）、S-100蛋白、CD1a、CD21、CD23、CD35、CD34、CD68、波形蛋白、结蛋白、HMB45、p53]观察并结合临床资料对5例滤泡性树突状细胞肉瘤进行临床病理分析。5例均获随访。结果5例患者中男3例,女2例,平均年龄37岁。肿瘤均位于头颈部淋巴结。镜下观察：肿瘤组织呈片巢状、束状或旋涡状排列,瘤细胞卵圆形或梭形,胞质丰富淡嗜酸性;核卵圆形或胖梭形,趋向不规则成簇分布,散见多核巨细胞;核染色质稀疏,核仁小而清楚;核分裂象数目不等,有时显示明显的核异型。瘤细胞CD21、CD23、CD35阳性,少数瘤细胞CD68、S-100蛋白阳性,CD1a、CD34、HMB45、CK均阴性。电镜下瘤细胞有长而明显的绒毛状胞质突起及特征性的桥粒样连接,未见Birbeek颗粒。随访5～52个月（平均26个月）,无复发或再复发及转移。结论滤泡性树突状细胞肉瘤是一种少见的恶性肿瘤,预后不确定。正确诊断需要病理组织形态、电镜及免疫组织化学相结合,并应与朗格汉斯细胞肉瘤、指突状树突状细胞肉瘤、恶性纤维组织细胞瘤、黑色素瘤、梭形细胞癌等相鉴别。     

恶性血管周上皮样细胞肿瘤2例并文献复习

目的 探讨恶性血管周上皮样细胞肿瘤(malignant perivascular epitheliod cell tumor,PEComa)的临床、病理特征及鉴别诊断.方法 对2例恶性PEComa进行临床、病理形态学、免疫表型及电镜观察,并复习相关文献.结果 镜下见肿瘤组织由梭形细胞及上皮样细胞构成,细胞异型性明显,细胞胞质透明或嗜酸,细胞核大,有核仁,瘤细胞由纤细的纤维结缔组织及薄壁血管将其分隔成巢状、腺泡状、片状结构,部分区域可见多核瘤巨细胞伴肿瘤坏死,核分裂多见.免疫表型:肿瘤细胞表达HMB-45、S-100、SMA及desmin;电镜下见肿瘤细胞胞质内可见高电子密度核心的内分泌小体和少许不成熟的黑色素小体.结论 恶性PEComa罕见,病理形态多样,熟悉其临床、病理形态、免疫表型及电镜下改变,有助于临床、病理医师对其正确诊断及鉴别诊断.     

阴茎硬化性脂质肉芽肿1例并文献复习

目的探讨阴茎硬化性脂质肉芽肿(sclerosing lipogranuloma,SLG)的临床表现、病理学形态、免疫表型及生物学行为。方法回顾性分析1例阴茎SLG的临床病理学特征、免疫表型及分子检测结果,并复习相关文献。结果眼观:不规则结节状组织4块,切面灰白色、灰黄色,质硬,无出血、坏死。镜检:肿物呈多结节状,无包膜,界不清,脂肪坏死、组织变性,混有多量组织细胞、泡沫性吞噬细胞和多核巨细胞,少量多核巨细胞胞质内可见放射状星形小体。间质伴有广泛纤维化和玻璃样变,较多量淋巴细胞和浆细胞浸润。免疫表型:组织细胞、泡沫性吞噬细胞和多核巨细胞均弥漫表达CD68、vimentin,不表达S-100、HMB-45。FISH检测MDM2基因无扩增。结论阴茎SLG为罕见病变,国内尚无报道,患者一般有局部矿物油注射史。需与腺瘤样瘤、血管平滑肌脂肪瘤和高分化脂肪肉瘤相鉴别。完整切除是主要治疗手段。     

内淋巴囊肿瘤的临床病理分析

目的 探讨内淋巴囊肿瘤的临床病理学特征及诊断、鉴别诊断要点。方法 对3例内淋巴囊肿瘤病例进行临床病理分析、PAS及免疫组织化学染色。结果 内淋巴囊肿瘤的临床症状包括进行性加重感音神经性聋、耳鸣、眩晕、颅神经受累等症状。镜下瘤组织呈乳头状囊性腺样结构，其内可见粉染蛋白样物质。部分瘤细胞的胞质透明，核的形态及大小相近，异型性较少见。肿瘤问质为大量增生的纤维结缔组织及透明变性的胶原纤维，可见出血、噬含铁血黄素细胞、异物巨细胞及胆固醇结晶。免疫表型：CK、NSE阳性，GFAP、S-100蛋白、EMA、CgA、TG、Syn阴性。结论 内淋巴囊肿瘤是罕见的肿瘤，其诊断和鉴别诊断主妻靠病理组织学和免疫组织化学。     

肺恶性潜能未定血管球瘤1例临床病理观察

目的探讨肺恶性潜能未定血管球瘤(glomus tumor,GT)的临床病理特征及其鉴别诊断。方法对1例肺恶性潜能未定GT的活检标本、术中冷冻标本、术中细胞学刮片及术后标本进行常规病理组织学检查及免疫组化标记,探讨其临床病理特征,并复习相关文献。结果瘤细胞丰富,圆形或卵圆形,密集围绕血管,胞质均匀透明淡染,核圆,较一致,位于中央,部分区细胞增生活跃,偶见核分裂象。免疫表型:瘤细胞SMA和vimentin均阳性,Syn、CD56、Cg A、CK、CK7、Napsin A和TTF-1均阴性,Ki-67增殖指数约10%。结论肺GT非常罕见,活检、冷冻及细胞学诊断困难,确诊主要依据临床病理组织学及免疫表型特征。通过对肺GT进行观察,为进一步提高GT的诊断准确率并分析治疗方案提供临床病理资料。     

胼胝体原发性骨外黏液样软骨肉瘤1例并文献复习

目的探讨胼胝体原发性骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC)的临床病理学特征、免疫表型及鉴别诊断。方法对1例胼胝体原发性EMC进行临床病理学及免疫表型分析,并复习相关文献。结果患者男性,40岁,临床表现为进行性头疼加重伴恶心呕吐,MRI示胼胝体见团块状实性占位,并见片状不均匀强化;镜下肿瘤呈分叶状和结节状结构,结节之间为宽窄不等的纤维结缔组织间隔,结节由瘤细胞和黏液样基质组成。瘤细胞呈梭形、短梭形、卵圆形、上皮样、横纹肌样(或浆细胞样)。胞质少到中等,胞质淡染,部分胞质丰富,嗜酸性,可见胞质内空泡或胞质内嗜酸性包涵体。核分裂象少见(2个/10HPF),可见肿瘤性坏死。免疫表型:肿瘤细胞强阳性表达vimentin,弱阳性表达CD99、NSE,灶状表达S-100,不表达CK广谱、EMA、CD99、Myo D1、GFAP、Olig-2等,Ki-67增殖指数约25%。细胞遗传学表现为t(9;22)(q22;q12)易位,检测到EWSR1-NR4A3融合性基因。结论胼胝体原发性EMC罕见,确诊主要依靠形态学及免疫组化标记,必要时分子病理学检查有帮助。临床及病理均需与脊索瘤、肌上皮瘤/肌上皮癌、脊索样脑膜瘤、伴有黏液背景的胶质肉瘤等肿瘤相鉴别,治疗以手术切除为主,预后较好。     

女性表型46,XY性发育障碍伴化疗后肉瘤样卵黄囊瘤阴道转移1例临床病理分析

目的探讨女性表型46,XY性发育障碍伴化疗后肉瘤样卵黄囊瘤(sarcomatoid yolk sac tumor, SYST)阴道转移的临床病理学特征、免疫表型、鉴别诊断及预后。方法对1例女性表型46,XY性发育障碍伴化疗后SYST进行临床病理观察和免疫组化结果分析,并复习相关文献。结果患者18岁,为女性表型46,XY性发育障碍患者,2016年因盆腔卵黄囊瘤(yolk sac tumor, YST)行手术及化疗,而后阴道出血1年余入院。切除阴道赘生物送检,镜下见瘤组织弥漫分布,由梭形、星形、多形性、巨细胞和疏松/黏液样基质构成。胞核异型,深染。巨细胞散在或小簇状分布,见多核及奇异核,伴出血、坏死。免疫表型:CK(部分+),Glypican-3、vimentin、SMA和CD68均(+),EMA、AFP、SALL4、PLAP、CD30和OCT3/4均(-)。Ki-67增殖指数为20%。结论 YST可伴有肉瘤样型,常在化疗后转移性肿瘤中以独立肿瘤出现,对标准化疗方案不敏感,常提示预后差,需引起临床医师的高度重视。     

伴有破骨细胞样巨细胞的胰腺未分化癌1例报道及文献复习

目的：探讨伴有破骨细胞样巨细胞的胰腺未分化癌的临床病理特点.方法：观察1例伴有破骨细胞样巨细胞的胰腺未分化癌的形态学特征,并进行免疫组织化学染色.结果：伴有破骨细胞样巨细胞的胰腺未分化癌肿瘤主要有两种细胞组成,一种为单核细胞,分为组织细胞样单核细胞和梭形或多形性瘤细胞两型;另一种为多核巨细胞,分为非肿瘤性的破骨细胞样巨细胞和瘤巨细胞两型.免疫组织化学研究显示,这两种细胞Vimentin均阳性,均不表达cytokeratin（AE1/AE3）,CK5/6,CEA,CgA;其中破骨细胞样巨细胞、组织细胞样单核细胞CD45,CD68阳性,而瘤巨细胞和梭形瘤细胞阴性.结论：伴有破骨细胞样巨细胞的胰腺未分化癌是一种罕见恶性肿瘤,可能为胰腺未分化癌的一个亚型.诊断需与胰腺恶性纤维组织细胞瘤、转移的骨巨细胞瘤或黑色素瘤等鉴别.     

Vascular leiomyoma of the lung arising from pulmonary artery

Leiomyoma of the lung is extremely rare. The entity is not described in WHO blue book. Less than 100 cases of leiomyoma of the lung have been reported in the literature. However, vascular leiomyoma has not been reported in the literature, to the author’s best knowledge. Herein reported is the first case of vascular leiomyoma of the lung arising from smooth muscles of the pulmonary artery. A 62-year-old woman (non-smoker) was found to have a small tumor in the upper lobe in the right lung in routine check. Imaging modalities including CT demonstrated no metastatic lesions. Although clinical cytology and biopsy revealed no malignant cell, right upper lobectomy was performed under the clinical diagnosis of lung carcinoma. Grossly, a white tumor of 1 x 0.8 cm was recognized in the lung. Microscopically, the tumor was connected to the pulmonary arteries. The tumor was composed of mature smooth muscles. Small pulmonary arteries are embedded in the tumor. No lymphatics were seen. Immunohistochemically, the tumor cells were poisitive for alpha-smooth muscle actin, vimentin and Ki-67 (labeling 2%). However, they were negative for cytokeratin (CK) AE1/3, CK CAM5.2, desmin, S100 protein, p53, CD34, KIT, HMB45, estrogen receptor, progesterone receptor, and myoglobin. A pathological diagnosis of primary vascular leiomyoma arising from the smooth muscle of pulmonary artery was made. The patient is now free from tumor, and is now alive 10 year after the operation.     

乳腺癌肉瘤1例报道及文献复习

目的探讨乳腺癌肉瘤的临床病理学特征及其鉴别诊断。方法对1例乳腺癌肉瘤进行组织病理学和免疫表型观察并复习文献,了解该肿瘤的特征。结果镜检显示病变边界清楚,以软骨肉瘤为主,其边缘有少量分化较差的浸润性导管癌成分。免疫表型：软骨肉瘤细胞vimentin强阳性,S-100蛋白阳性,ER、PR,c-erbB-2和CK（AE1／AE3）均阴性;癌细胞CK（AE1／AE3）、ER、PR及c—erbB—2均阳性,vimenfin、S—100蛋白阴性。结论原发于乳腺的癌肉瘤较罕见,诊断需与乳腺恶性分叶状肿瘤以及软组织肉瘤鉴别。     

Pulmonary synovial sarcoma with polypoid endobronchial growth: a case report, immunohistochemical and cytogenetic study

A rare case of primary pulmonary synovial sarcoma with polypoid endobronchial growth in a 42-year-old Japanese woman is described. Left upper sleeve lobectomy was performed for the polypoid tumor measuring 2.5 cm in the left major bronchus and the patient was treated with adjuvant chemotherapy. Three years later, a recurrent tumor was discovered. Microscopically, this tumor was characterized by a proliferation of oval to spindle-shaped cells arranged in sheets and fascicles and covered by the thin normal bronchial epithelium. Immunohistochemically, tumor cells were positive for vimentin, and focally positive for pancytokeratin recognized by AE1/AE3, cytokeratin 7 and epithelial membrane antigen. A chimera gene, SYT-SSX1, was detected. Recently, primary pulmonary synovial sarcoma is an increasingly recognized clinical entity; however, most of these tumors present as a parenchymal mass. The present case is a unique example of primary synovial sarcoma of endobronchial polypoid type. This case suggests that pulmonary synovial sarcoma might originate from bronchial submucosal stromal tissue.     

小肠原发性绒毛膜癌临床病理分析并文献复习

目的:探讨小肠原发性绒毛膜癌的临床特征、病理特点、诊断及治疗方法.方法:分析8例小肠原发性绒癌的临床病理特征,复习相关文献.结果:8例病例的典型症状为黑便,5例病变部位位于空肠.所有病例血清β-hCG均异常升高.主要病理特点为细胞滋养细胞及合体滋养细胞呈片状分布,伴出血及坏死.免疫组织化学结果示肿瘤细胞β-hCG为阳性.结论:小肠原发性绒毛膜癌十分罕见,但仍应纳入鉴别诊断.通过形态学特点、免疫表型及检测血清β-hCG水平可确诊.     

Epithelioid trophoblastic tumor after induced abortion with previous broad choriocarcinoma: a case report and review of literature

Epithelioid trophoblastic tumor (ETT) is a rare trophoblastic tumor originating from chorionic-type intermediate trophoblasts (ITs). It is usually associated with a prior gestational event. We present a 44-year-old woman who had unusual pregnancy related history. The patient received her second spontaneous abortion at the age of 25 years and had suffered from choriocarcinoma in left board ligament at the age of 29 years. She admitted no more treatment after 3 courses of multiagent chemotherapy when serum β-hCG returned to normal. Then she had Full-term delivery, induced abortion at the ages of 32, 33 years. The patient had high serum levels of beta-human chorionic gonadotropin (6587 IU/L). Microscopically, the tumor was composed of mainly mononuclear tumor cells, grew in cords, nests, and sheets within which were aggregates of hyaline material. Most were with distinct cell borders, eosinophilic cytoplasm. Immunohistochemical staining revealed strong diffuse reactivity for cytokeratins (AE1/AE3, CK18), P63, focal reactivity for beta-human chorionic gonadotropin, human placental lactogen, and inhibin-alpha. The Ki-67 index was 77%. The histological and immunohistochemical features were characteristic of epithelioid trophoblastic tumor. This is the first reported case of these two gestational trophoblastic tumor happened on one person with the intervening normal pregnancy.     

Cytopathologic findings and differential diagnostic considerations of primary clear cell carcinoma of the lung

Primary clear cell carcinoma (CLCC) of the lung is an extremely rare disease and is a subtype of large cell carcinoma, according to the World Health Organization (WHO) classification. A case is presented here in which intraoperative squash smears in a 53‐year‐old man revealed sheet and small clusters or tumor cells with prominent nucleoli and fine granular chromatin. Abundant translucent cytoplasm with occasional cytoplasmic vacuoles and intracytoplasmic eosinophilic inclusions was also identified. A cytopathologic diagnosis of a CLCC was suggested. Further evaluation and immunohistochemical studies were conducted on formalin‐fixed, paraffin‐embedded material. Nests of slightly acidophilic clear tumor cells with a prominent cellular membrane and an alveolar growth pattern were identified on H&E sections. Immunohistochemically, the tumor cells showed diffuse and strong membranous staining for CK(AE1/AE3), CK7, and CA19‐9 but were negative for Napsin A, CK20, CDX2, TTF‐1, alpha‐fetoprotein, chromogranin A, synaptophysin, CD10, and CD56. The diagnosis of primary CLCC of the lung was confirmed based on cytopathologic, histopathologic, immunohistochemical results, and a detailed systemic examination to exclude a possible extrapulmonary origin. We report here the cytopathological features of CLCC of the lung with an emphasis on differential diagnostic considerations. Diagn. Cytopathol. 2013. © 2011 Wiley Periodicals, Inc.     

Small cell carcinoma of the urinary bladder

Primary small cell carcinoma of the urinary bladder is very rare; only several studies have been reported in the English literature. A 62-year-old woman was admitted to our hospital because of hematuria and dysuria. Bladder endoscopy revealed a large polypoid tumor at the bladder base. Transurethral bladder tumorectomy (TUR-BT) was performed. Many TUR-BT specimens were obtained. Histologically, the bladder tumor was pure small cell carcinoma. Immunohistochemically, the tumor cells were positive for cytokeratin (CK) AE1/3, CK CAM5.2, CK8, CK18, neurone-specific enolase, chromogranin, NCAM (CD56), synaptophysin, Ki-67 (labeling=100%), p53, KIT (CD117), and platelet-derived growth factor receptor-α (PDGFRA). The tumor cells were negative for CK5/6, CK 34BE12, CK7, CK14, CK19, CK20, p63, CD45, and TTF-1. A molecular genetic analysis using PCR-direct sequencing showed no mutations of KIT (exons 9, 11, 13 and 17) and PDGFRA (exons 12 and 18) genes. No metastases were found by various imaging techniques. The patient is now treated by cisplatin-based chemotherapy.     

Cytopathologic features and differential diagnostic considerations of primary lymphoepithelioma-like carcinoma of the lung

Primary lymphoepithelioma-like carcinoma (LELC) of the lung is an extremely rare disease that occurs more commonly in Asians, and is composed of undifferentiated carcinoma with prominent lymphoid stroma. LELC is reported to be closely associated with Epstein-Barr virus (EBV) infection. A case is presented here in which bronchial brushing smears in a 70-year-old man, revealed large clusters of neoplastic cells with scant cytoplasm. The nuclei were large, hyperchromatic, of irregular contour and with prominent nucleoli. Also identified were prominent intratumoral lymphoid infiltration and brisk mitotic figures. We detected EBV-coded small RNA in situ hybridization in smears. A cytologic diagnosis of a LELC was suggested. Further evaluation and immunohistochemical studies were conducted on formalin-fixed, paraffin-embedded material. Cords or nests of large neoplastic cells with enlarged nuclei and prominent nucleoli with marked lymphoid infiltration and lymphoid stroma were identified on H&E sections. Immunohistochemically, the tumor cells showed diffuse and strong membranous staining for CK(AE1/AE3), CK5/6, CK34βE12, Napsin A and Bcl-2 but were negative for CK7, CK14, CK20, EMA, TTF-1, chromogranin A, synaptophysin and CD56. The proliferative index with MIB-1 was around 60%, and the p53 positive cells around 20%. The diagnosis of primary LELC of the lung was confirmed based on cytopathologic, histopathologic, immunohistochemical and EBER results, and a detailed systemic examination to exclude possible extrapulmonary (nasopharyngeal) origin. We report the cytopathological features of LELC of the lung and demonstrate here for the first time the positivity of the EBER with RNA-ISH method in smears with emphasis on differential diagnostic considerations.     

Primary signet-ring cell carcinoma of the lung: a case report with an immunohistochemical study

Primary signet-ring cell adenocarcinoma (SRCA) of the lung is very rare. A 78-year-old man consulted to our hospital because of loss of appetite. Physical examination showed lymphadenopathy of the cervical lymph nodes. Chest X-ray showed a tumor of the right upper lobe. Blood laboratory test showed an increase of LDH and CRP. Tumor markers (CYFRA, SCC, CEA, ProGRP) were within normal range. Clinical diagnosis was suspected malignant lymphoma of the lung. Transbronchial lung biopsies showed SRCA (70%) mixed with poorly differentiated adenocarcinoma (30%). The SRCA cells were positive for mucins. Immunohistochemically, the SRCA cells were positive for cytokeratin (CK) AE1/3, CK CAM5.2, CK7, CK18, EMA, p53, Ki-67 (labeling=60%), CEA, CA19-9, TTF-1, and MUC1. They were negative for CK34BE12, CK5/6, CK8, CK14, CK19, CK20, vimentin, chromogranin, synaptophysin, CD45, CD20, CD3, surfactant Apoprotein-A, CDX-2, MUC2, MUC5AC and MUC6. A pathological diagnosis of SRCA of the lung was made. The patient showed downhill course, and died of carcinomatosis 3 months after the first manifestation. In conclusion, a vary rare case of primary pulmonary SRCA was reported with an immunohistochemical study.