Hershcovici Ronald, Frenkel Shahar, Goldstein Gal, Pe'er Jacob, Eiger-Moscovich Maya
Faculty of Medicine, The Hebrew University, Jerusalem, Israel.
Division of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Semin Ophthalmol. 2025 Oct;40(7):668-673. doi: 10.1080/08820538.2025.2450681. Epub 2025 Jan 8.
Trilateral retinoblastoma (TRB), intracranial neoplasm in heritable retinoblastoma patients, is a very rare fatal disease. Many ocular oncology centers conduct routine screening of retinoblastoma patients by brain imaging. Nevertheless, there is a debate regarding its ability to prolong TRB patients' survival and the number-needed-to-treat. We recommend baseline screening brain imaging in bilateral retinoblastoma patients, followed by imaging according to clinical need. We aim to see if this screening schedule has an impact on patients' survival.
In a retrospective observational study, we reviewed the medical records of patients diagnosed with bilateral retinoblastoma at a tertiary medical center ocular oncology unit between 1.7.1986 and 1.2.2020, who had at least 36 months follow-up or retinoblastoma-related death. We collected data on patients' demographics, clinical features, systemic evaluation, treatment, follow-up, and outcome.
The analysis included 109 patients, 60 males and 49 females, diagnosed with bilateral retinoblastoma at a median age of 7.0 months (range 0.43-70.5 months). Germline mutation was found in 43 patients (39.4%) and somatic mutation in 15 patients (13.8%). Genetic status was not recorded in 51 patients (46.8%). Fifty-eight patients (53.0%) underwent baseline brain imaging (MRI in 42 patients and CT scan in 16 patients), in all of whom it was within normal limits. During a median follow-up of 138 months (range 19-787 months), 35 children had follow-up brain imaging (MRI in 25 patients and CT in 10 patients). One patient developed symptomatic TRB during follow-up, and is alive and disease-free (0.9%, Cl:0.02%-5.6%). Looking at survival, six patients (5.5%) developed metastatic disease, and eight patients (7.3%) expired, in all of whom death was retinoblastoma-related.
Due to TRB rarity, routine screening by baseline brain MRI may be sufficient, avoiding anesthesia, expenses, distress, and unnecessary interventions, without a significant impact on patients' survival. Nevertheless, due to TRB fatality and treatment morbidity, periodic brain MRI until age 3 is a legitimate option.
三边性视网膜母细胞瘤（TRB）是遗传性视网膜母细胞瘤患者发生的颅内肿瘤，是一种非常罕见的致命疾病。许多眼科肿瘤中心通过脑部成像对视网膜母细胞瘤患者进行常规筛查。然而，对于其延长TRB患者生存期的能力以及所需治疗人数存在争议。我们建议对双侧视网膜母细胞瘤患者进行基线筛查脑部成像，随后根据临床需要进行成像检查。我们旨在观察这种筛查方案是否对患者的生存期有影响。
在一项回顾性观察研究中，我们回顾了1986年7月1日至2020年2月1日期间在一家三级医疗中心眼科肿瘤科室被诊断为双侧视网膜母细胞瘤且至少有36个月随访或视网膜母细胞瘤相关死亡的患者的病历。我们收集了患者的人口统计学数据、临床特征、全身评估、治疗、随访和结局等信息。
分析纳入了109例患者，其中男性60例，女性49例，双侧视网膜母细胞瘤的中位诊断年龄为7.0个月（范围0.43 - 70.5个月）。43例患者（39.4%）发现胚系突变，15例患者（13.8%）发现体细胞突变。51例患者（46.8%）未记录基因状态。58例患者（53.0%）接受了基线脑部成像检查（42例患者进行了MRI检查，16例患者进行了CT扫描），所有检查结果均在正常范围内。在中位随访138个月（范围19 - 787个月）期间，35例儿童进行了随访脑部成像检查（25例患者进行了MRI检查，10例患者进行了CT检查）。1例患者在随访期间发生有症状的TRB，目前存活且无疾病（0.9%，可信区间：0.02% - 5.6%）。从生存情况来看，6例患者（5.5%）发生了转移性疾病，8例患者（7.3%）死亡，所有死亡均与视网膜母细胞瘤相关。
由于TRB罕见，通过基线脑部MRI进行常规筛查可能就足够了，可避免麻醉、费用、痛苦和不必要的干预，且对患者的生存没有显著影响。然而，鉴于TRB的致命性和治疗的发病率，在3岁前定期进行脑部MRI检查也是一种合理的选择。
