目的：探讨眼部转移性透明细胞肾细胞癌(clear-cell renal cell carcinoma，CC-RCC)的临床病理特点。方法：选取复旦大学附属眼耳鼻喉科医院2010年1月至2020年12月收治的5例并经病理学检查证实的眼部转移性CC-RCC患者的临床病理资料，包括病史、临床表现、影像学检查、病理形态学特点、免疫表型及随访结果等，并进行回顾分析。结果：5例患者中3例为脉络膜转移性CC-RCC，均为男性，年龄51~62岁，均表现为右眼前黑影伴视力下降，病程为1~6个月，术前检查视力均为眼前手动，眼底见视网膜下隆起肿块伴视网膜脱离。B超显示球内隆起肿物，中等回声，考虑脉络膜黑色素瘤。其中例2在2年前有左侧肾CC-RCC切除病史，术后1年转移至肺。3例患者均行眼球摘除加义眼座植入术。病理学形态及免疫组织化学染色结果提示为球内恶性肿瘤，考虑转移性CC-RCC，建议在肾等处寻找原发灶。术后例1腹部CT检查发现左肾占位，考虑肾癌。胸部CT检查示两下肺多个转移瘤。例3术后PET-CT发现左肾占位，手术切除后证实为左肾CC-RCC。2例为眼眶转移性CC-RCC，例4为女性，56岁，右眼红肿伴眼球突出2个月，2个月前行右肾CC-RCC切除术，PEC-CT提示右侧眼眶转移伴骨质破坏。例5为男性，65岁，左眼眉弓处肿物3年，7年前行左肾癌摘除术，后肺部转移。所有5例患者手术切除标本病理学检查均示肿瘤细胞细胞质透明或颗粒状，呈实性片状和腺样分布，间质血管丰富，免疫组织化学表达CK、VIM、CD10和PAX-8等标记提示CC-RCC转移。结论：CC-RCC可以转移至脉络膜或眼眶，病理学上需要和其他眼部具有透明细胞特征的原发和转移性肿瘤相鉴别。
Objective: To evaluate the clinicopathological features of ocular metastatic clear-cell renal cell carcinoma.Methods: Data of 5 patients (5 eyes) with ocular metastatic clear-cell renal cell carcinoma treated and diagnosed at Eye & ENT Hospital of Fudan University from January 2010 to December 2020 were retrospectively analyzed for medical history, clinical features, imaging examinations, pathomorphological features, immunophenotypes and survival outcomes. Results: There were 3 males of choroidal metastatic clear-cell renal cell carcinoma with age from 51 to 62 years old. They all presented with shadow before the eye and reduced visual acuity of the right eye for 1 to 6 months. On examination the visual acuity was hand movement in front of the affected eye. Fundus examination showed a subretinal elevated mass with retinal detachment. B-scan ultrasound demonstrated an intraocular mass with medium internal reflectivity suspected of choroidal melanoma. Case 2 reported a history of clear-cell renal cell carcinoma treated with a left nephrectomy 2 years ago and developed lung metastasis 1 year ago. Three patients all underwent enucleation and prosthesis implantation. Histopathological and immunohistochemical examinations showed intraocular malignant tumor suggestive of clear-cell renal cell carcinoma which needed further examinations to confirm the primary tumor. Postoperative computed tomography scan of the abdomen for case 1 revealed a mass of the left kidney highly suggestive of a renal cell carcinoma. The computed tomography scan of the chest revealed multiple lesions suggestive of lung metastasis. Postoperative PET-CT scan of case 3 revealed a mass of the left kidney which was confirmed to be clear-cell renal cell carcinoma histopathologically. There were 2 patients of orbital metastatic clear-cell renal cell carcinoma. One 56-year-old female patient (Case 4) presented with swelling, redness and proptosis of the right eye for 2 months. Two months ago, her right kidney was resected for the diagnosis of clear-cell renal cell carcinoma. PEC-CT revealed metastasis to the right orbit with bone destruction. Another 65-year-old male patient (Case 5) presented with palpable mass of the left eyebrow for 3 years. He had left nephrectomy for renal cell carcinoma 7 years earlier and metastasis to the lung later. Histopathology of all 5 cases demonstrated uniform cells with clear or granular cytoplasm in solid and glandular arrangement surrounded by a rich vascular network. Immunohistochemical positivity for the biomarkers CK, Vimentin, CD10 and PAX-8 confirmed the diagnosis of metastatic clear-cell renal cell carcinoma.Conclusion: Clear-cell renal cell carcinoma can metastasize to the choroid or orbit. It should be differentiated from the other ocular primary and metastatic tumors with clear-cell appearance histopathologically.
目的：探讨眼眶黏膜相关淋巴组织(mucosa-associated lymphoid tissue，MALT)结外边缘区B细胞淋巴瘤的临床表现、影像学特征及病理学特点，以期减少眼眶淋巴瘤的误诊，提高生存率。方法：对2020年1月至2020年12月中山大学中山眼科中心诊治的71例眼眶MALT结外边缘区B细胞淋巴瘤的临床、影像及病理学资料进行回顾性分析。结果：71例患者中，男38例，女33例；左侧眼眶31例，右侧眼眶34例，双侧眼眶6例；原发病例67例，复发病例4例；年龄23~84岁，病程为3个月~15年。最常见的临床表现是眼部肿块和不同程度的眼球活动受限；磁共振成像(magnetic resonance imaging，MRI)检查见密度均匀的软组织影，呈“铸造样”，眼球内未见侵犯；组织病理检查可见肿瘤由小至中等大小淋巴样细胞组成，瘤细胞呈弥漫或片状生长，核小到中等、不规则，核仁不明显，部分细胞呈单核样淋巴瘤细胞改变，其中9例可见浆细胞样分化，伴浆细胞分化的病例kappa与lambda的表达不对称。结论：眼眶MALT结外边缘区B细胞淋巴瘤有多种临床表现，影像学检查具有一定的特征，可辅助术前诊断。病理学检查可用于术后的准确诊断及分型，据此制定合适的治疗方案，提高疗效。
Objective: To investigate the clinical, imaging and pathological features of orbital extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT), so as to reduce misdiagnosis and improve survival rate.Methods: The clinical, imaging and histopathological data of 71 patients with orbital extranodal marginal zone B cell lymphoma of MALT who were treated in Zhongshan Ophthalmic Center, Sun Yat-sen University from Jan.2020 to Dec. 2020 were retrospectively analyzed. Results: There were 38 males and 33 females in the 71 patients.There were 31 cases located on the left orbit, 34 cases on the right orbit, and 6 cases were bilateral; there were 67 primary cases and 4 relapsed cases. The age ranged from 23 to 84 years old. The disease course ranged from 3 months to 15 years. The main clinical manifestations included ocular masses and limited eyeball movement.Magnetic resonance imaging showed a “cast-like” soft tissue shadow of uniform density, and no intraocular invasion is observed. Histopathological examination showed that the tumor was composed of small to medium sized lymphocyte-like cells. Tumor cells exhibited diffuse or lamellar growth, with small to medium-sized irregular nuclei, and the nucleoli were inconspicuous. Some of the lymphocyte-like cells showed mononuclear lymphoma cells changes, and plasmacytoid differentiation was observed in 9 cases, in which kappa and lambda expressions were asymmetric.Conclusion: The clinical manifestations of orbital extranodal marginal zone B cell lymphoma of MALT are various, and imaging examination has certain characteristics, which can assist preoperative diagnosis.Pathological examination can be used for accurate diagnosis and classification after operation, based on which appropriate treatment plan can be made and curative effect can be improved.
目的：分析泪阜部色素痣合并鳞状细胞乳头状瘤的临床及组织病理学特征。方法：选取2002年1月至2020年6月天津市眼科医院经手术切除的色素痣合并鳞状细胞乳头状瘤1 0例，分析患者的临床及组织病理学特征。结果：10例患者中男性5例(50%)，年龄(50.20±19.57)岁，左眼5例，右眼5例，其中7例(70%)为复合痣，3例(30%)皮内痣，未见交界痣，7例复合痣和2例皮内痣可见结膜上皮细胞囊肿；鳞状细胞乳头状瘤中，有蒂型7例(70%)，无蒂型3例(30%)，9例(90%)含结膜杯状细胞，1例(10%)伴有鳞状上皮角化，3例(30%)伴慢性炎症，2例(20%)伴有轻度非典型增生，所有病例未见明显的弹力纤维变性。结论：泪阜部色素痣合并鳞状细胞乳头状瘤比较少见，外观易误诊为色素痣恶变或黑色素瘤，临床上应注意甄别，确诊有赖于组织病理学检查。
Objective: To analyze the clinical pathologic characteristics of pigment nevus of lacrimal caruncle complicated with squamous cell papilloma.Methods: This is retrospective case series study including ten patients diagnosed as pigment nevus of lacrimal caruncle complicated with squamous cell papilloma who underwent surgical treatment at Tianjin Eye Hospital from January 2002 to June 2020. The clinical and histological data were abstained for statistical analysis. Results: Among the included 10 patients 5 (50%) were males. The mean age was 50.20±19.57 years (ranged, 21 to 72 years). Five cases involved with the right eye and the other 5 cases involved with the left eye. In term of subtype of nevus, 7 cases (70%) were compound nevus and the left 3 cases (30%) were intradermal nevus. The conjunctival epithelial cysts were found in 7 cases of compound nevus and 2 cases of intradermal nevus. Regarding the clinical appearance of papilloma, 7 cases were pedunculated and 3 cases were sessile. There were 9 papilloma eyes containing conjunctival goblet cells, 1 shows hyperkeratosis, 3 with chronic inflammation,2 showed mild atypia. There was no obvious elastosis in any of the tumors.Conclusion: The pigment nevus of lacrimal caruncle complicated with squamous cell papilloma mainly localized were not common. They were easily misdiagnosed as melanoma and the diagnosis depended on histopathological examination.
目的：探讨眼囊尾蚴病的临床病理学特点。方法：回顾性分析7例眼囊尾蚴病的临床资料、大体与镜下病理改变。结果：男女性别比1:6，平均年龄24.7(中位数20)岁。临床以眼睑与眼周红肿、肿胀为主要症状3例，视物不清、视力下降2例，复视1例，结膜红肿1例。囊尾蚴寄生于球结膜1例，寄生于眼球内2例，寄生于眼眶内4例。7例均见到猪囊尾蚴，均在虫体内找到石灰小体，其中2例伴有坏死，可在坏死物中找到石灰小体。结论：眼囊尾蚴病以青少年女性多见，眼内型以视力下降为主要症状，眼眶型以眼睑与眼周红肿、肿胀为主要症状。找到囊尾蚴虫体与头节是眼囊尾蚴病明确诊断依据之一，石灰小体是该病重要病理诊断线索。
Objective:To explore the clinicopathological characteristics of ocular cysticercosis. Methods: The clinical data,grossing and microscopic pathological changes of 7 cases of ocular cysticercosis were analyzed retrospectively.Results: In this study, the male-to-female ratio was 1:6, the mean age was 24.7 (median age 20) years old. Of these patients, 3 patients presented with eyelid and periocular redness and swelling, 2 with blurred vision and decreased vision, 1 with diplopia, and 1 with conjunctival swelling and redness. In addition, 1 case was parasitized by cysticercus in the bulbar conjunctiva, 2 cases were in the eyeball and 4 cases were in the orbit. Cysticercus cellulosae containing calcareous corpuscle were observed in all cases, including 2 were accompanied by necroses with calcareous corpuscle.Conclusion: Ocular cysticercosis is found to be more common in female adolescents.Decreased vision is the main clinical symptom in intraocular infections, while orbital infections often show redness and swelling of eyelid and periocular. The finding of cysticercus and scolex in specimens is one of the confirmed diagnostic bases of ocular cysticercosis and calcareous corpuscles are important pathological diagnostic clues for this disease.
目的：探讨眼眶原发性滑膜肉瘤(synovial sarcoma，SS)的临床病理学及分子遗传学特点。方法：收集1例复旦大学附属眼耳鼻喉科医院眼科2020年10月收治并经病理学检查证实为眼眶原发性SS的病例，同时回顾性分析文献中已报道的10例眼眶原发性SS的临床及病理检查资料，包括临床表现、影像学检查、组织学特点、免疫表型及分子病理学检查结果。结果：患者女，53岁，因“复发性右眼眶内肿物13余年”收治入院。SS组织病理学：肿瘤由弥漫分布的单一短梭形细胞组成，肿瘤细胞异型性明显，胞质少，核分裂多见；肿瘤侵犯结膜下、巩膜表面、视神经鞘膜、眶内肌肉及纤维脂肪组织。免疫组织化学检查提示波形蛋白(Vimentin)、Calpolnin、CD99、Bcl-2均阳，SMARCB1(INI-1)部分阳/弱阳。荧光原位杂交(fluorescence in situ hybridization，FISH)法检测到SS18基因易位。回顾性总结文献中已报道的10例和本例(总共11例)眼眶SS患者，其中男性2例，女性9例，左眼6例，右眼5例；患者发病年龄为1~53岁，平均年龄22岁，中位年龄24岁。患者术前病程范围较广，为1周~13年。11例中，5例症状至少出现3年以上，多表现为进行性眼球突出伴眼球移位及运动受限，疼痛及视力下降。CT和MRI上多表现为分叶状或者卵圆形软组织肿块，部分因出血坏死出现囊性外观，增强扫描显示病灶呈不均匀强化。组织学上，本组11例眼眶SS中单相纤维型7例，双相型4例，单相纤维型中有2例存在分化差的成分。免疫组织化学染色显示：上皮样成分表达上皮标记(CKpan、CK7、CK19)和Vimentin；梭形细胞表达Vimentin、CD99、Bcl-2、Calpolnin、TLE1及灶性表达上皮标记。结论：眼眶原发性滑膜肉瘤罕见，形态上需要和眼眶其他软组织来源恶性肿瘤相鉴别，其具有特征性t(x:18)(p11;q11)染色体易位，产生SY T-SSX融合基因，分子病理学的检测有助于最后确诊。
Objective: To investigate the clinicopathological and molecular genetics features of synovial sarcoma (SS) of the orbit. Methods: We retrospectively reviewed 10 published cases of primary SS of the orbit, along with 1 case of primary SS of the orbit confirmed by pathology who was admitted to the ophthalmology department of Eye & ENT Hospital of Fudan University in October 2020. The clinical data, radiological findings,morphology, immunophenotype and genetic characteristics of the cases were analyzed. Results: Our case was a 53-year-old woman with an SS in the right orbit, which had recurred multiple times. Histopathologic examination showed a primitive tumor composed of spindled and ovoid cells. Focal infiltration was observed in adjacent structures, such as the sub-conjunctiva, scleral surface, optic nerve sheath, muscle, and fibro-fatty tissue. Immunohistochemistry showed positivity for vimentin, calponin, CD99, and Bcl-2 and loss of INI-1expression, which is typical of SS. Fluorescence in situ hybridization (FISH) showed the (X;18)translocation in the tumor cells. The analysis included 2 males and 9 females aged between 1 and 53 years old (mean: 22 years; median: 24 years). Among the SS cases, 6 left eyes and 5 right eyes (all monocular cases)were affected. Symptoms had been present from 1 week to 13 years in the case from our hospital, while in 5 cases, symptoms had been present for at least 3 years. Common clinical features of the patients included proptosis or globe displacement, decreased vision, and pain. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed an ovoid mass with heterogenous enhancement and a cystic appearance,which was probably attributable to hemorrhage or necrosis. Of these 11 cases, 7 cases were biphasic SS,4 were monophasic fibrous SS, and 2 were poorly differentiated in monophasic SS. Immunohistochemistry revealed positivity for pan-cytokeratin (CKpan), CK7, CK19, vimentin, cluster of differentiation 99 (CD99),B-cell lymphoma 2 (Bcl-2), calponin and transducin-like enhancer protein 1 (TLE1). Conclusion: Primary SS of the orbit is extremely rare and needs to be distinguished from other spindle cell tumors of orbital soft tissue. The SS diagnosis is based on the presence of the t(X;18) (p11; q11) translocation, which results in an SYT-SSX fusion gene.
