| 陈卫花,刘霞.视网膜色素上皮肿瘤 1例临床病理分析及文献复习[J].安徽医药,2026,30(8):1632-1636. |
| 视网膜色素上皮肿瘤 1例临床病理分析及文献复习 |
| Clinicopathological analysis and literature review of a case of retinal pigment epithelium tumor |
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| DOI：10.3969/j.issn.1009-6469.2026.08.029 |
| 中文关键词: 视网膜色素上皮 腺瘤 腺癌 恶性黑色素瘤 免疫组织化学 鉴别 特征 |
| 英文关键词: Retinal pigment epithelium Adenoma Adenocarcinoma Malignant melanoma Immunohistochemistry Differen-tial Feature |
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| 目的探讨 1例罕见视网膜色素上皮( RPE)肿瘤的临床和病理形态、免疫组织化学特征、诊断及鉴别诊断。方法回顾性分析徐州市第一人民医院 2024年 1月收治的 1例 RPE肿瘤病人的临床资料、对其组织标本采用苏木精 -伊红和免疫组织化学染色，并进行形态学观察和分析，再结合相关文献复习。结果 54岁女性，因自感左眼胀痛，视力模糊、下降就诊。查眼 B超:左眼玻璃体混浊，占位性病变，局限性视网膜脱离。眼眶磁共振成像(MRI):左眼球内占位，考虑黑色素瘤并视网膜脱离可能而入院。光镜下检查:肿瘤组织位于视网膜，界限清晰，未见明确对视网膜和脉络膜的侵袭，肿瘤主要呈腺管状排列，局灶呈乳头状和嵌合型分布，腺腔内有色素团块、散在细胞影，未见明显间质纤维和血管，瘤细胞中等大小，呈柱状或立方状，细胞排列紧密、体积不均，界限不清，核质比增大，细胞质内充满数量不等的黑色素颗粒，局灶瘤细胞胞质不含色素，局灶细胞胞质透亮呈空泡状，细胞核大小、染色不均，可见核仁，核分裂象可见( 1个/50高倍镜视野)有一定异型性。免疫组织化学结果:广谱细胞角蛋白( CKp)(+)，钙结合蛋白( S-100)(+)，黑素细胞抗原 A(Melan A)(+)，上皮膜，抗原( EMA)(+)，增殖细胞核抗原( Ki-67)(15%+)；人黑色素瘤黑素体蛋白抗体 45(HMB-45)(.)SRY盒转录因子 10(SOX10)(.)癌胚抗原( CEA)(.)P63蛋白(.)波形蛋白( vimentin)(.)BRCA1相关蛋白 1(BAP1)(.)黑，色素瘤优先表达抗原( PRAME)(，.)。病理诊断: RPE肿，瘤。结论 R，PE肿瘤典型特征包括界限，清晰的腺管状 /乳头状排列、，黑色素颗粒沉积及细胞异型性，免疫组织化学( CKp、S-100、Melan A、EMA阳性， HMB-45、SOX10阴性)支持 RPE来源，并与高侵袭性肿瘤(如黑色素瘤)等鉴别。诊断需结合形态学与免疫表型综合分析， Ki-67(15%+)提示潜在增殖活性。 |
| 英文摘要: |
| Objective To investigate the clinical and pathological morphology, immunohistochemical characteristics, diagnosis anddifferential diagnosis of rare retinal pigment epithelium (RPE) tumors.Methods A retrospective analysis was performed for the clini-cal data of one patient with RPE cancer in Xuzhou First People's Hospital in January 2024, and the tissue samples were stained withhematoxylin-eosin and immunohistochemistry, and reviewed in combination with relevant literature.Results A 54-year-old female pre-sented with self-reported left eye pain, blurred vision, and decreased visual acuity. Ocular B-scan ultrasound revealed vitreous opaci-ties, a space-occupying lesion, and localized retinal detachment in the left eye. Orbital magnetic resonance imaging (MRI) suggested anintraocular mass in the left eye, consistent with possible melanoma and retinal detachment, leading to hospital admission. Light micros-copy examination: The tumor tissue was located in the retina with clear borders, and no definitive invasion of the retina or choroid wasobserved. The tumor predominantly exhibited a glandular/tubular pattern, with focal papillary and nested (mortula-like) arrangements.The glandular lumina contained pigment clumps and scattered cellular debris. No obvious stromal fibrosis or blood vessels were seen.The tumor cells were medium-sized, columnar or cuboidal in shape, with closely packed arrangement, variable cell size, and indistinct cell borders. The nucleus-to-cytoplasm ratio was increased. The cytoplasm was filled with variable amounts of melanin pigment. Insome areas, tumor cells lacked cytoplasmic pigment; in other foci, the cytoplasm was clear and vacuolated. The nuclei showed variationin size and chromatin pattern, with visible nucleoli. Mitotic figures were observed (1 per 50 high-power fields). Mild atypia was present. Immunohistochemistry results: CKp(+), S-100(+), Melan A(+), EMA(+), Ki-67(15%+); HMB-45(.), SOX10(.), CEA(.), P63(.), vimen-tin(.), BAP1(.), PRAME(.). Pathological diagnosis: retinal pigment epithelium tumor. Conclusions Typical features of retinal pig-ment epithelium (RPE) tumors include well-defined glandular tubular/papillary arrangements, melanin granule deposition, and cellularatypia. Immunohistochemistry (positive for CKp, S-100, Melan A, and EMA, negative for HMB-45 and SOX10) supports RPE originand differentiates it from highly invasive tumors such as melanoma. Diagnosis requires a comprehensive analysis of morphology and im-munophenotype. A Ki-67 index of 15%+ suggests potential proliferative activity. |
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