论著

眼眶原发性滑膜肉瘤的临床病理学观察

Primary synovial sarcoma of the orbit: a clinicopathological review

:590-599
 
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SYT-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.
论著

眼囊尾蚴病7例的临床病理分析

Clinicopathological analysis of 7 cases of ocular cysticercosis

:630-635
 
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.
论著

白内障超声乳化手术中主控液流与重力液流系统对青光眼患者视盘血流的影响

Influence of active versus passive phacoemulsification fluidics systems on optic disc blood flow in patients with glaucoma

:642-648
 
目的:比较重力液流与主控液流2种灌注方式下行白内障超声乳化手术对青光眼患者视盘血流的影响。方法:采用随机数字表法将患者分为2组,分别为重力液流灌注组和主控液流灌注组。记录术中超声乳化累积释放能量(cumulative dissipated energy,CDE),术后1天、1周、1个月和3个月患者最佳矫正视力(best corrected visual acuity,BCVA)、眼压、视盘血流密度及视网膜神经纤维层厚度。结果:主控液流灌注组术中CDE小于重力液流灌注组(5.6±1.3 vs 6.3±1.2,P=0.034)。术后1天重力液流灌注组视盘周围血管密度(circumpapillary vascular density,cpVD)、整个图像血管密度(whole en face image vessel density,wiVD)和视盘内血管密度(inside disc vascular density,inside disc VD)均高于主控液流灌注组(P<0.05),其余时间点差异无统计学意义(P>0.05)。术后1周和1个月重力液流灌注组视网膜神经纤维层厚度大于主控液流灌注组(P<0.05),术后1天和3个月未见明显差异。结论:相较于传统的重力液流灌注,主控灌注能够在青光眼患者白内障超声乳化手术中减少超声能量的使用,术后早期可减轻由术中高眼压引起的视盘炎症性充血,可以减轻对视网膜神经纤维层的影响。
Objective: To compare the influence of active versus passive phacoemulsification fluidics systems on optic disc blood flow in patients with glaucoma. Methods: Patients were divided into 2 groups by a random number table method, namely the active fluidics system group and the passive fluidics system group. The intraoperative cumulative dissipated energy (CDE) was recorded, and the best corrected visual acuity (BCVA), intraocular pressure, optic disc blood flow density and retinal nerve fiber layer thickness were measured at the follow-up of 1 day, 1 week, 1 month and 3 months. Results: During phacoemulsification, CDE in the active fluidics system group was lower than that in the passive fluidics system group (5.6±1.3 vs. 6.3±1.2, P=0.034). One day after the surgery, the circumpapillary vessel density (cpVD), whole image vessel density (wiVD) and inside disc vascular density (inside disc VD) in the passive fluidics system group were higher than those in the active fluidics system group (P<0.05), and the differences were not statistically significant at the rest of the follow-ups (P>0.05).The retinal nerve fiber layer in passive fluidics system group was thicker than that in active fluidics system group at the follow-ups of 1 week and 1 month (P<0.05), and the difference was not statistically significant at the follow-up ofs 1 day and 3 months. Conclusion: Compared with the traditional passive fluidics system, the active fluidics system can reduce the CDE during phacoemulsification surgery. It can reduce the inflammatory congestion of the optic disc caused by intraoperative high intraocular pressure on the early postoperative stage. In addition, it can also protect retinal nerve fiber layer.
论著

活体共聚焦显微镜诊断角膜后部真菌感染与病理诊断的比较研究

A comparative study between in vivo confocal microscopy and pathological examination in diagnosing retrocorneal fungal infection

:607-614
 
目的:比较活体共聚焦显微镜和病理检查在角膜后部真菌感染的诊断阳性率,探讨两种检查方法在角膜后部真菌感染诊断中的价值。方法:回顾性病例对照研究。收集2009年11月至2020年12月在青岛眼科医院就诊并进行穿透性角膜移植手术治疗角膜后部真菌感染患者,术前均进行角膜刮片KOH涂片检查和活体共聚焦显微镜检查,术后病变角膜进行病理组织切片、过碘酸-Schiff法(PAS)染色和六亚甲基四胺银法(GMS)染色检查,比较不同检查方法诊断的阳性率。结果:18例角膜后部真菌感染患者角膜刮片KOH涂片均未检查到真菌菌丝,其中有16例患者经活体共聚焦显微镜检查到真菌菌丝(88.9%),而2例患者在术前活体共聚焦显微镜检查中未查到病原体。术后病理检查PAS染色联合GMS染色,18例患者中18例均可检查到真菌菌丝,角膜后部真菌感染患者病理切片中可见角膜深基质层变性坏死,大量炎症细胞浸润,PAS染色和GMS染色可见典型真菌菌丝侵犯角膜基质深层,而角膜基质浅层及上皮层均未查见真菌菌丝。结论:活体共聚焦显微镜诊断角膜后部真菌感染具有一定的局限性,联合术后病理组织切片和特殊染色检查有助于提高角膜后部真菌感染的诊断率。
Objective: To compare the diagnostic rate between in vivo confocal microscopy and pathological examination in retrocorneal fungal infection. Methods: It is a retrospective study. A total of 18 patients with retrocorneal fungal infection and received PKP surgery in the Qingdao Eye Hospital from November 2009 to December 2020 were enrolled. KOH smear and in vivo confocal microscopy examination were performed before surgery, and pathological examination including periodic acid-schiff (PAS) stain and Grocott Methenamine Silver (GMS) stain were performed after surgery. Patients were diagnosed retrocorneal fungal infection based on in vivo confocal microscopy and pathological examination. The diagnostic rates of the two methods were compared. Results: None of the 18 patients with posterior corneal fungal infection were found to have fungal hyphae in the corneal smear. Sixteen patients (88.9%) were found fungal hyphae by in vivo confocal microscopy. Corneal stroma necrosis and a large number of inflammatory cells were shown by postoperative pathologic examination, and all patients were found fungal hyphae in posterior corneal stroma with PAS stain and GMS stain. Conclusion: Confocal microscopy has unique advantages such as non-invasive and rapid examination in the diagnosis of fungal keratitis. However, it needs to combine with pathological examination for diagnosing the retrocorneal fungal infection.
论著

泪阜部色素痣合并鳞状细胞乳头状瘤10例的临床病理学分析

Clinicopathological analysis of 10 cases of pigment nevus of lacrimal caruncle complicated with squamous cell papilloma

:636-641
 
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10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.
论著

泪腺腺样囊性癌不同病理组织学分型和分级间骨质破坏、神经侵犯和预后的差异

Association of bone destruction, nerve invasion and prognosis of lacrimal gland adenoid cystic carcinoma with different histological types and grades

:600-606
 
目的:研究泪腺腺样囊性癌不同病理组织学分型和分级间骨质破坏、神经侵犯和预后的差异。方法:回顾性分析2010年4月至2019年4月首都医科大学附属北京同仁医院眼肿瘤科收治并经病理组织学检测确诊的30例泪腺腺样囊性癌患者的完整病历资料。分析患者的一般病历资料、医学影像学资料、病理组织学检查结果以及预后情况等,并系统研究泪腺腺样囊性癌病理组织学分型和分级与患者预后的关系。结果:30例患者中,病理组织学分型为筛状型9例(30.0%),实体型10例(33.3%),混合型11例(36.7%),其中实性和腺管混合型4例(13.3%)、实性和筛状混合型4例(13.3%)、筛状和腺管混合型3例(10.0%)。病理组织学分级为I级12例(40.0%);II级4例(13.3%);III级14例(46.7%)。不同病理组织学分型肿瘤骨质破坏发生率差异有统计学意义(P=0.046);不同病理组织学分级肿瘤骨质破坏发生率差异无统计学意义(P=0.513)。不同病理组织学分型与分级肿瘤神经侵犯、远处转移发生均无相关性(均P>0.05)。在行手术联合放射治疗后,不同病理组织学分型肿瘤的无复发率差异有统计学意义(P<0.05);实体型的无复发率在36个月内最低(P=0.037);而病理学分级与手术联合放射治疗后的无复发率无关(P=0.059)。结论:泪腺腺样囊性癌病理组织学分型与骨质破坏发生率和复发率显著相关,其中实体型肿瘤较易复发。而病理学分型与神经侵犯和远处转移发生率无关。病理组织学分级与骨质破坏、神经侵犯、远处转移和复发率无显著相关性。
Objective: To investigate the differences in bone destruction, nerve invasion, and prognosis of lacrimal gland adenoid cystic carcinoma (LGACC) among different histologic types and grades. Methods: A retrospective analysis was performed on 30 cases of lacrimal gland adenoid cystic carcinoma confirmed by histopathology who were admitted to the Department of Ophthalmic Oncology, Beijing Tongren Hospital, Capital Medical University from April 2010 to April 2019. The general data, imaging findings, histological examination and prognosis were collected and analyzed, with the focus on the relationship between the histological characteristics and the prognosis of lacrimal gland adenoid cystic carcinoma. Results: Among the 30 patients, 9 cases of cribriform type (30.0%); 10 cases of solid type (33.3%); 11 cases of mixed type (36.7%), including 4 cases of solid and glandular (13.3%), 4 cases of solid and cribriform (13.3%), 3 cases of cribriform and glandular (10.0%). The histopathological grade was I in 12 cases (40.0%), II in 4 cases (13.3%) and III in 14 cases (46.7%). There was statistical difference in the incidence of bone destruction among different histological types (P=0.046). There was no significant difference in the incidence of bone destruction among different histological grades (P=0.513). There was no significant difference between different histological grades and types and the incidence of nerve invasion and distant metastasis (all P>0.05). After surgery combined with radiotherapy, there was a statistical difference in the recurrence-free rate of different histological types, and the recurrence-free rate of solid type was the lowest within 36 months (P=0.037). Histological grade was not associated with recurrence-free rate after surgery combined with radiotherapy (P=0.059). Conclusion: The histological type of adenoid cystic carcinoma of lacrimal gland was significantly correlated with the incidence of bone destruction and recurrence rate, in which solid type was more likely to relapse. And the histological type was not associated with the incidence of nerve invasion or distant metastasis. Histopathological grade was not significantly associated with the rate of bone destruction, nerve invasion, distant metastasis, and recurrence.
论著

抗水通道蛋白AQP4单抗的制备及其初步应用

Preparation and preliminary application of aquaporin 4 (AQP4) specific monoclonal antibody

:623-629
 
目的:制备抗水通道蛋白4(aquaporin 4,AQP4)单克隆抗体,鉴定其免疫学性能为后期临床应用奠定基础。方法:合成AQP4优势抗原表位多肽,经过免疫小鼠、细胞融合及亚克隆筛选,制备可分泌高效价高亲和力的单克隆抗体细胞株,后期获取大量单克隆抗体通过酶联免疫吸附和免疫组织化学实验进行初步实验应用。结果:获得4株杂交瘤细胞株,均能稳定分泌高亲和力抗体,经酶联免疫吸附测定实验和免疫组织化学实验证实均能特异性识别人的AQP4蛋白。结论:成功制备了亲和力高、特异性强的抗人AQP4优势抗原表位的单克隆抗体,为小分子抗体以及抗体人源化制备奠定了基础,进而为治疗视神经脊髓炎相关疾病提供理论依据和技术支持。
Objective: To lay the foundation for clinical applications in the future, we prepare and identify the immunological properties of aquaporin 4 (AQP4) monoclonal antibodies. Methods: The dominant epitope polypeptides of AQP4 were synthesized and used to obtain the cell lines which secrete high tiler and high affinity monoclonal antibodies by immunizing BALB/c mouse cell fusion and screening of subclone. The large amount of monoclonal antibodies were obtained and used for practice via immunohistochemical staining and Enzyme-linked immunosorbent assay (ELISA). Results: Four hybridomas that can stably secret anti-AQP4 antibodies were obtained. ELISA, Western blot and Immunohistochemistry results suggested that the monoclonal antibodies specifically recognized human AQP4 protein. Conclusion: The anti-human AQP4 monoclonal antibody with high affinity and specificity was successfully generated, which thereby provides the foundation for the preparation of small molecule antibodies or humanized antibodies, and then lays a theoretical and technical basis for the treatment of neuromyelitis optica (NMO).
综述

白内障的分子病理改变

Molecular pathological changes of cataract

:663-668
 
白内障是世界范围内失明的主要原因。正常晶状体是富有弹性的形似双凸透镜的透明体,是机体内蛋白质含量最高的组织,由晶状体囊膜、晶状体上皮细胞、晶状体纤维和悬韧带构成。白内障为晶状体透明度下降,表现为晶状体混浊。近年来随着分子生物学、表观遗传学、免疫学、有机化学等学科快速发展,国内外学者对白内障也进行了大量分子水平的研究,探讨了白内障发生发展相关分子机制,为未来基因治疗和靶向药物等治疗白内障提供了理论基础。对白内障分子病理改变的了解,是白内障精准诊治的基础。
Cataract is the main cause of blindness worldwide. The normal crystalline lens is a transparent biconvex disc, with highest protein content in all human tissues. The lens is composed of capsule, lens epithelial cells, lens fiber and zonular ligment. Cataract is a decrease in the transparency of the lens, which is characterized by opacity. In recent years, with the rapid development of molecular biology, epigenetics, immunology and organic chemistry, researchers have conducted a large number of studies on the molecular basis of genetic or targeted therapy of cataract. It is important to know the molecular pathology of cataract, which is the basis of precise diagnosis and treatment of cataract.
病例报告

线状皮脂腺痣综合征伴双眼多发异常1例

Linear sebaceous nevus syndrome with multiple binocular abnormalities: A case report

:657-662
 
线状皮脂腺痣综合征(linear nevus sebaceous syndrome,LNSS)是一种以皮脂腺痣(nevus sebaceous,NS)为特征性改变,同时合并癫痫、智力迟钝、神经缺陷或骨骼畸形等病变的疾病。本文报道1例经病理组织学检查确诊的LNSS患者,同时伴有双眼脉络膜骨瘤和脑部先天发育异常。由于线状皮脂腺综合征伴双眼多发异常较为少见,本文将总结该例患者的临床和病理表现,旨在为临床诊疗提供一定参考资料。
Linear nevus sebaceous syndrome (LNSS) is a disease characterized by nevus sebaceous (NS) and accompanied by epilepsy, mental retardation, nerve defect or skeletal deformity. We report a case of linear sebaceous nevus syndrome diagnosed by histopathological examination with bilateral choroidal osteoma and congenital developmental abnormalities of the brain. Since linear sebaceous gland syndrome with binocular abnormalities is relatively rare, this paper will summarize the clinical and pathological manifestations of this patient, aiming to provide certain reference for clinical diagnosis and treatment.
病例报告

眼眶副神经节瘤1例

Orbital paraganglioma: A case report

:653-656
 
眼眶部副神经节瘤极为罕见,多属非功能性肿瘤。本病例为1位中年女性,以右眼眼睑抬举无力为主诉就诊,眼眶计算机断层扫描(computed tomography,CT)和磁共振成像(magnetic resonance imaging,MRI)检查发现右眼眼眶内肿物,手术完整切除,结合HE染色和免疫组织化学检查,病理组织学诊断为眼眶副神经节瘤,随访3年,肿瘤无复发。
Orbital paraganglioma is a rare disease and mostly belongs to non-functional tumors. In this report, we described a middle-aged female admitted to our hospital with the chief complaint of weak lifting of her right eyelid. Orbital computed tomography (CT) and magnetic resonance imaging (MRI) examination detected an intra-orbital mass in the right eye. Complete excision was conducted, and post-operative histopathological and immunohistochemical examination revealed the mass to be orbital paraganglioma. Within the 3-year follow-up, the patient showed no recurrence.
其他期刊
  • 眼科学报

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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  • Eye Science

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
    浏览
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