目的：分析各种病因摘除眼球的患儿中视网膜母细胞瘤(retinoblastoma，RB)的误诊率，并总结其临床和病理特点。方法：回顾性分析2003年以来在中山眼科中心因临床诊断为RB并接受眼球摘除的患者563例(577眼)，比较术前临床诊断和术后病理诊断，从中筛选出误诊病例，分析这些病例的临床和病理特点，包括患者年龄、性别、治疗过程、临床影像学、肿瘤病理分期、病理诊断以及分化程度。结果：共发现误诊病例22例(22眼)，误诊率3.91%，所有误诊病例均为单眼摘除患者。常见的临床误诊类型为：与Coats病相混淆12例(12眼)，与眼内炎症反应混淆5例(5眼)，以及与眼内其他肿瘤混淆5例(5眼)。所有患者中，>4岁者55例，其中误诊12例，误诊率21.82%。结论：与RB相关的临床误诊并不罕见，其中最常见的误诊病因是Coats病，>4岁患者是误诊的主要人群。
Objective: To investigate the misdiagnosis rate in enucleated eyes for retinoblastoma (RB), analyze the clinicopathological features and summarize differential diagnosis. Methods: Retrospective analysis was performed on 563 cases (577 eye) undergoing eyeball enucleation in Zhongshan Ophthalmic Center Sun Yat-sen University since 2003. Misdiagnosed cases were screened out by comparing the preoperative clinical diagnosis and postoperative pathological diagnosis. The clinical and pathological features of those misdiagnosed caseswere summarized, including age, gender, therapeutic process, imagological examination, pathological stage and pathological diagnosis. Results: Twenty-two cases had been misdiagnosed, which account for 3.91% of 563 enucleated eyeball cases. All of misdiagnosed cases had underwent monocular eyeball enucleation. Diseases that were easily misdiagnosed with RB were Coats disease (12/22), endophthalmitis (5/22) and other intraocular tumor (5/22). Among all patients, 55 patients were older than 4 years old, of which 12 cases were misdiagnosed,with a misdiagnosis rate of 21.82%. Conclusion: It is not unusual for clinical misdiagnosis of RB. Coats disease is the most frequent cause of RB misdiagnosis. Misdiagnosis rates is higher in patients over 4 years old.
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.
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.
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.
眼球表面鳞状细胞性肿瘤是比较常见的眼表肿瘤，包括鳞状细胞乳头状瘤、日光性角化病、结膜上皮内瘤变和鳞状细胞癌。深入了解这些病变的临床和病理学特点，有利于提高临床诊断的正确性。本文对眼球表面鳞状细胞性肿瘤的类型、临床表现和病理学特点进行阐述，以期对临床诊治提供参考。
Ocular surface squamous neoplasia (OSSN) is the most common tumor of the ocular surface, including squamous cell papilloma, actinic keratosis, conjunctival intraepithelial neoplasia and squamous cell carcinoma. The extended understanding of clinicopathological features could help improve clinical accurate diagnosis of these lesions. This article reviews the classification, clinical features and pathological characteristics of OSSN to provide the reference for clinical diagnosis and treatment.
眼科病理学是系统组织病理学的重要分支，作为基础医学与临床医学之间的桥梁和纽带，对于深入认识和揭示眼部疾病的发病特点发挥着重要作用。眼科病理学在老一辈专家们的努力下奠定了坚实的基础。目前眼科病理学学科的发展随着眼科临床技术以及系统病理学的发展在不断的前进，细胞生物学及分子生物学的全方位结合和纵深应用带动并拓展了眼科病理学的研究领域，临床病理学及实验病理学的研究不断更新，新形势下眼科病理学的发展充满着机遇和挑战。
Ophthalmic pathology is an important branch of histopathology. As a bridge and link between basic medicine and clinical medicine, ophthalmic pathology plays an important role in understanding and revealing the characteristics of ocular diseases. The previous generations have laid a solid foundation for ophthalmic pathology with their hard work. Moreover, the advancement of ophthalmic clinical technology and systematic pathology in recent years have further facilitated the development of ophthalmic pathology. The comprehensive combination and in-depth application of cell biology and molecular biology have promoted and expanded the research field of ophthalmic pathology. In addition, new progress has been witnessed in the field of clinical pathology and experimentalpathology constantly. Under the new situation, the development of ophthalmic pathology is faced with both opportunities and challenges.
