Meel Rachna, Kashyap Seema, Bakhshi Sameer, Singh Bajaj Mandeep, Wadhwani Meenakshi
Oculoplastics and Ocular Oncology Service, New Delhi, India.
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Ocul Oncol Pathol. 2020 Dec;6(6):395-404. doi: 10.1159/000509040. Epub 2020 Oct 23.
The aim of this work was to study the clinical and histopathology features and treatment outcome in retinoblastoma cases presenting at an older age (>6 years).
This was a retrospective study. We recruited 48 retinoblastoma patients who were treated at our institute over 7 consecutive years and were older than 6 years at presentation.
Medical records were reviewed for data, including age at diagnosis, gender, laterality, family history, lag time, first symptom, misdiagnosis, clinical findings, grade and stage of disease at diagnosis, treatment, outcome, and follow-up status. Histopathology slides were reviewed and assessed for the presence of histopathological high-risk features (HRF) for metastasis. The main outcome measures were the frequency of atypical clinical features like hyphema, pseudohypopyon, glaucoma, cataract, vitreous hemorrhage, and phthisis, and misdiagnosis, prior intervention, stage of disease at presentation, and treatment outcome.
In total, 48/610 (7.8%) patients were older than 6 years, with a median age of 7 years (range 6-31). Retinoblastoma was bilateral in 7 cases. The most common initial symptom was white reflex followed by a decrease in vision. The median lag time was 9 months. Fourteen cases (29.2%) were misdiagnosed, with endophthalmitis the most common misdiagnosis. Twenty-six (54%) patients had intraocular disease, 12 (25%) had locally advanced disease, and 10 (21%) had metastatic disease at presentation. Overall, 67% (14/21) of the eyes that were enucleated upfront for presumed intraocular disease had histopathological HRF. At last follow-up, 31/36 (86%) who were treated were alive and healthy, while 5 (14%) patients had disease progression.
This is the largest study of older age retinoblastoma and shows that it forms a significant percentage of retinoblastoma in developing countries, is misdiagnosed in one-third of cases, and may present at an advanced stage in 46% of cases.
本研究旨在探讨年龄较大（>6岁）的视网膜母细胞瘤患者的临床及组织病理学特征和治疗效果。
这是一项回顾性研究。我们招募了连续7年在我院接受治疗且就诊时年龄大于6岁的48例视网膜母细胞瘤患者。
查阅病历以获取数据，包括诊断时年龄、性别、患侧、家族史、延迟时间、首发症状、误诊情况、临床表现、诊断时疾病的分级和分期、治疗、结局及随访状态。回顾并评估组织病理学切片，以确定是否存在转移的组织病理学高危特征（HRF）。主要观察指标为前房积血、假性前房积脓、青光眼、白内障、玻璃体积血和眼球痨等非典型临床特征的发生频率、误诊情况、先前干预措施、就诊时疾病分期及治疗效果。
总共48/610（7.8%）例患者年龄大于6岁，中位年龄为7岁（范围6 - 31岁）。7例为双侧视网膜母细胞瘤。最常见的初始症状是白瞳症，其次是视力下降。中位延迟时间为9个月。14例（29.2%）被误诊，最常见的误诊为眼内炎。26例（54%）患者就诊时为眼内疾病，12例（25%）为局部晚期疾病，10例（21%）为转移性疾病。总体而言，因疑似眼内疾病而早期摘除眼球的眼中，67%（14/21）具有组织病理学HRF。在最后一次随访时，接受治疗的36例患者中有31例（86%）存活且健康，5例（14%）患者疾病进展。
这是关于年龄较大的视网膜母细胞瘤的最大规模研究，表明在发展中国家，该类型在视网膜母细胞瘤中占相当比例，三分之一的病例被误诊，46%的病例就诊时可能已处于晚期。
