近5年来眼睑皮脂腺癌研究取得一系列成果。临床研究方面，明确了眼睑皮脂腺癌冰冻切缘控制显微手术的意义，提出了患者预后指标；在基础研究方面，描述了基因突变谱，揭示了3种相互独立的发病模式，以及提出了免疫及靶向治疗相关研究；我国眼肿瘤工作者也在眼睑皮脂腺癌研究方面树立了国际地位。本文对近5年国内外眼睑皮脂腺癌相关研究方面的主要成果进行总结分析，并展望治疗前景，为临床提供有益参考。

In recent 5 years, a series of studies have been made in the mechanism of onset of eyelid sebaceous carcinoma worldwide. In clinical research, the prognosis has made in predicting progression of patients with eyelid sebaceous carcinoma, and the significancy of frozen margin control in microsurgery was clarified. In field of basic research, from elucidation of mutational landscape to revelation of three independent pathogenesis patterns, from researches on immunotherapy to targeted therapy, efforts have been made to reveal the pathological mechanism to both aspect of its morbidity and development. This paper summarizes, analyzes and reviews the main achievements in recent 5 years on eyelid sebaceous carcinoma.

眼睑皮脂腺癌是起源于眼睑部位皮脂腺体的恶性上皮性肿瘤，易复发、转移，主要治疗方式仍以手术切除为主，但患者整体预后并不理想，早期正确诊断和靶向治疗是改善患者预后和改进治疗的关键。眼睑皮脂腺癌临床表现复杂，早期容易误诊或漏诊进而延误治疗，病理检查是其诊断的金标准。此外，目前关于眼睑皮脂腺癌发病机制未完全阐明，癌发生发展的分子生物学过程尚未明确。因此，多方面了解眼睑皮脂腺癌发病机制为靶向治疗提供理论基础是十分必要的。本文主要从眼睑皮脂腺癌发病机制包括遗传因素、表观遗传、外源病毒感染、免疫逃逸、端粒酶学说等方面对眼睑皮脂腺癌作一综述。

Eyelid sebaceous gland carcinoma is a malignant epithelial tumor originating from eyelid sebaceous glands, which is prone to relapse and metastasis. The treatment mainly depends on surgical excision, but the overall prognosis of patients is not ideal. Early diagnosis and targeted therapy are the keys to improve the prognosis of patients. Due to its complex clinical manifestations, early misdiagnosis or missed diagnosis is easy to delay treatment, and pathological examination is still the gold standard for its diagnosis. In addition, the pathogenesis of eyelid sebaceous gland carcinoma is still unclear, and the molecular biological process of the occurrence and development is less understood. Therefore, it is very necessary to understand the pathogenesis of eyelid sebaceous gland carcinoma in various aspects to provide a theoretical basis for targeted therapy. In this paper, the pathogenesis of eyelid sebaceous gland carcinoma was reviewed from the aspects of gene , epigenetic, viral infection, immune escape, , telomerase theory and so on.

Merkel细胞癌(Merkel cell carcinoma，MCC)是一种少见的高度恶性的皮肤原发性神经内分泌癌，发生于眼睑的MCC更加罕见。本文对2例眼睑MCC患者的临床病史和治疗过程进行回顾和总结。1例初发患者经手术彻底切除，效果良好，随访7年，未再复发；1例患者在外院切除术后2个月，于眼睑原位复发，再次行手术彻底切除，2个月后同侧腮腺淋巴结及颈前淋巴结扩散，目前仍在肿瘤科进一步放化疗中。复习相关文献并结合本组病例提示，MCC诊断主要依靠病理检查，彻底切除病灶并结合术后放化疗是其治疗的主要手段，免疫治疗是目前新的发展趋势。

The Merkel cell carcinoma (MCC) is a rare highly malignant primary neuroendocrine carcinoma of the skin, especially in the eyelids. In this report, the clinical history and treatment course of 2 patients with MCC of the eyelid were reviewed and summarized. Patient 1 with primary MCC of eyelid was treated with complete surgical excision, with good results. Follow-up for 7 years had shown no recurrence. Patient 2 with the eyelid relapse in situ two months after resection in another hospital, was treated with complete surgical excision again, but the tumor metastasized to the ipsilateral lymphonodi parotidici and cervical lymph nodes two months after the surgery. The patient is now going through radiotherapy and chemotherapy in oncology department. According to the review of literatures, the diagnosis was based on the pathologic evidence. Complete removal of lesion combined with postoperative radiotherapy and chemotherapy is a major means of treatment for MCC. Immunotherapy will play a more important role in the future.

患者女，因左眼睑反复红肿3个月余就诊。眼眶CT检查：左眶前部可见边界清楚的低密度软组织影，病变向眶外上方延伸，通过位于蝶骨大翼与蝶骨嵴交汇处侵蚀性骨孔与颅内病变沟通。颅内可见额叶、颞叶散在分布的团块状高密度病灶。眼眶MRI检查：边界清楚的异常信号病灶从左上睑延伸至眶上方和眶外上方，呈囊性改变。颅内病变呈混杂信号，散在分布于颞叶和额叶。临床诊断为左眼眶、颅沟通性病变。于全身麻醉下行左眼眶病变切除术，术后病理诊断为眼眶棘球蚴囊肿(包虫病)。发生于眶、颅的沟通性包虫病少有报道，本病例提示对于眶、颅沟通性包虫病需要根据病变的性质、位置采取个性化治疗原则，术前影像学检查的判断分析是辅助治疗的重要手段。

A young female patient complained of recurrent redness and swelling of the right eyelid for more than 3 months. Orbital CT examination showed that low density soft tissue density shadow with clear boundary can be seen in the anterior part of the left orbit. The lesion extended to the upper part of the orbit and communicated with the intracranial lesion through the erosive foramen at the intersection of the great wing of the sphenoid bone and the sphenoid ridge. There were massive high-density lesions in the frontal and temporal lobes. MRI examination of orbit showed that the left upper eyelid extended to the upper orbit and the upper extraorbital region. There were cystic signal of the orbit lesion and mixed signals of intracranial scattering in temporal and frontal lobes. The clinical diagnosis was left orbital cranial communicating lesion. The patient underwent orbital tumor resection under general anesthesia and was diagnosed as echinococcosis by postoperative pathology. This case suggests that for orbital cranial communicating echinococcosis, individualized treatment should be adopted according to the nature and location of the lesions, in which imaging examination are important.

眼附属器淋巴组织增生性疾病作为一类疾病的总称，包括了良性淋巴组织增生、非典型性淋巴组织增生、IgG4相关眼病以及多种恶性淋巴瘤在内的数十种疾病类型。临床诊断此类疾病应将患者眼部体征、影像学检查与病理学检查紧密结合。随着免疫表型及分子病理等检测技术的进步，此类疾病之间的鉴别诊断正逐渐清晰。本文就眼附属器淋巴组织增生性疾病进行系统性描述，并重点探讨该类疾病的病理鉴别诊断。

Ocular adnexal lymphoproliferative disease, as a general term, contains reactive lymphoid hyperplasia, atypical lymphoid hyperplasia, IgG4 related ocular disease and malignant lymphoma. The clinical diagnosis of this kind of disease should integrate patient’s symptoms, imaging features and pathology characteristics. Development of immunophenotyping, molecular pathology and other detection technology will help with the differential diagnosis of ocular adnexal lymphoproliferative disease. This article is going to discuss the etiology, epidemiology, diagnosis and treatment of ocular adnexal lymphoproliferative disease, with a focus on the clinicopathological differential diagnosis of such disease.

近年来日益强大的眼内液分子/细胞生物学检测技术因其简便、快捷和高效的特点，使得眼科医生在诊断眼内淋巴瘤时倾向于单纯只依据此类方法而淡化病理诊断的重要性。眼内液分子/细胞生物学技术因其本身只能“间接提示肿瘤细胞存在”的局限性而不能作为眼内淋巴瘤的确诊依据。眼内组织/细胞病理仍然是眼内淋巴瘤诊断的金标准，其价值和地位不能被其他任何分子/细胞生物学检测手段所替代。理解并掌握各种诊断、检测技术的优势和局限性，规范和优化眼内组织/细胞病理标本的采集、保存和送检流程有助于提高眼科临床医生对眼内淋巴瘤的诊断效率和医疗质量。

In recent years, more and more powerful molecular/cellular biological techniques of intraocular fluid have made ophthalmologists tend to only rely on these methods in the diagnosis of intraocular lymphoma because of their features of simplicity, fastness and efficiency. The molecular/cellular biological techniques of intraocular fluid cannot be used as the basis for the diagnosis of intraocular lymphoma because it can only indicate the existence of tumor cells indirectly. Intraocular tissue/cell pathology remains the gold standard for the diagnosis of intraocular lymphoma, and its importance cannot be replaced by any other molecular/cell biological methods. Understanding and mastering the advantages and limitations of various diagnostic techniques, standardizing and optimizing the collection, preservation and submission process of intraocular tissue/cell specimens will help ophthalmologists improve the diagnostic efficiency and medical quality of intraocular lymphoma.

黏膜相关淋巴组织(mucosa-associated lymphoid tissue lymphomas，MALT)淋巴瘤是原发性眼附属器淋巴瘤(primary ocular adnexal lymphoma，POAL)中最常见的病理类型。目前，原发性眼附属器黏膜相关淋巴组织淋巴瘤(primary ocular adnexal mucosa-associated lymphoid tissue lymphoma，POAML)的临床类型和临床表现尚未被眼科医师熟练掌握，临床治疗亦无共识和指南。本文根据POAML起源位置，重点介绍各临床类型的早中期临床表现，以及针对各临床类型和病变范围的个体化治疗方法。

Mucosa-associated lymphoid tissue lymphomas (MALT) lymphoma is the most common pathologic type in primary ocular adnexal lymphoma (POAL). Currently, the clinical types and manifestations of primary ocular adnexal mucosa-associated lymphoid tissue lymphoma (POAML) have not been well understood by ophthalmologists, and there is no consensus or guideline for clinical treatment. According to the original location, this paper focuses on the clinical manifestations of early and intermediate-stage POAML, as well as the individualized treatment for each clinical type and lesion range.

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 cases were 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：探索用细胞块制备试剂盒对眼内玻璃体液微量细胞制备细胞块的成功率，苏木素-伊红(hematoxylin-eosin，HE)染色效果及技术要点。方法：收集中山大学中山眼科中心临床病理科2020年9月至2021年1月由临床送检的25例玻璃体液(含玻璃体切割液)，应用细胞块制备试剂盒制备细胞块后，常规固定、脱水、包埋、切片，随后进行HE染色，观察染色效果。结果：25例玻璃体细胞蜡块制作成功率达到100%，制片后HE染色效果好，背景干净，细胞形态清晰，核质对比分明。结论：应用细胞块制备试剂盒能将眼内玻璃体液微量细胞制成蜡块，极大提高了标本的利用率，为后续的病理研究提供丰富的材料。

Objective: To explore the effect and technical key points of the cell block preparation kit for collecting a few cells in ocular vitreous humor. Methods: A total of 25 cases of vitreous humor (including vitrectomy fluid) were collected from Zhongshan Ophthalmic Center, Sun Yat-sen University from September 2020 to January 2021. Cell block preparation kit was used to prepare cell blocks, which were routinely fixed, dehydrated, embedded, sectioned, and then hematoxylin-eosin (HE) stained. Results: The success rate of 25 cases of vitreous cell paraffin blocks reached 100%, and the morphology of the cells was clear with clean background and shape contrast of nucleus and plasma in HE staining. Conclusion: The cell block preparation kit can make the cells of intraocular vitreous humor into paraffin blocks, which greatly improves the utilization rate of specimens and is conducive to providing abundant materials for pathological studies.

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.