眼科病理学是组织病理学的重要分支，对于深入认识和揭示眼部疾病发挥着重要作用。眼科临床上常见的、严重影响人生存质量的原发性眼内恶性肿瘤是视网膜母细胞瘤(RB)和葡萄膜黑色素瘤(UM)，其中RB是婴幼儿常见的原发性眼内恶性肿瘤，而UM是成年人常见的原发性眼内恶性肿瘤。研究表明，RB患者中，大约2/3是由散发的体细胞 Rb1基因突变引起的，另外约1/3的RB是由生殖细胞 Rb1基因突变引起的，而RB的生物学研究提示，后者发生年龄早，通常为双眼发病，有遗传性。RB高危病理因素主要包括筛板后视神经受侵和/或大范围脉络膜受累，治疗过程中也是术后辅助化学疗法的重要指征。UM缺乏有效的全身治疗措施，最终约有一半患者死于肿瘤的远处转移，多数为肝脏转移。UM预后不良与肿瘤大小、睫状体受累、上皮样细胞型、眼外扩散等有关，单体型染色体3和2类基因表达谱是目前最准确和客观的UM预后指标。
Ocular pathology is an important branch of histopathology, which plays a key role in understanding and revealing ocular diseases.In ophthalmology, retinoblastoma (RB) and uveal melanoma (UM) are common primary malignant intraocular neoplasms, which seriously endanger patients' lives.About two thirds of RB patients are caused by sporadic somatic mutations in the Rb1 gene, and the other one third of RB patients are caused by germline mutations in the Rb1 gene, which occur in the early age, are usually bilateral and transmissible to offsprings.High-risk histopathologic factors of RB mainly include the retrolaminar optic nerve invasion and/or massive choroidal invasion, and these are main indications for postoperative adjuvant chemotherapy.At present, due to lack of effective systemic therapy, about half of UM patients succumb to distant metastasis, most of which are hepatic metastases.Poor prognostic indicators of intraocular neoplasms include large tumor, ciliary body involvement, epithelioid cell type, extraocular diffusion, etc.Monosomy 3 and class 2 gene expression profile are currently accurate and objective prognostic indicators.
李彬,顼晓琳. 从眼科病理学角度深入认识眼内肿瘤[J]. 中华实验眼科杂志,2015,33(11)：965-968.
DOI:10.3760/cma.j.issn.2095-0160.2015.11.002版权归中华医学会所有。
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