Gu Huali, Wang Yizhuo, Huang Dongsheng, Ji Xunda, Zhang Yi, Ma Jianmin, Li Mei, Zhang Weiling, Hu Huimin, Li Jing, Zhang Pinwei
Department of Pediatrics, Beijing Tongren Hospital, Capital Medical University, Beijing, People's Republic of China.
Department of Ophthalmology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
Cancer Manag Res. 2022 Apr 26;14:1565-1575. doi: 10.2147/CMAR.S360180. eCollection 2022.
Retinoblastoma (RB) is the most common intraocular malignancy in infancy and childhood. This study evaluated the clinical and imaging features, treatment, and prognosis of patients with recurrent RB with limb bone metastases and without central nervous system involvement.
The clinical data of five patients with RB with limb bone metastases who were diagnosed at the Department of Pediatrics in Beijing Tongren Hospital between January 2015 and January 2021 were analyzed retrospectively.
Three males and two females were included (seven eyes: four group E and one each of group D, C, and B). The most common symptom was pain. Three patients had bone marrow and lymph node metastases. Three patients had single and two had multiple skeletal lesions. The main bones that were involved were the femur, humerus, talus, and ulna. The simultaneous involvement of the bone marrow and cortex was also observed. Serum neuron-specific enolase (NSE) levels were significantly elevated in four cases and slightly elevated in one case; primary intravenous chemotherapy resulted in a decrease in NSE levels and the gradual resolution of the bone lesions. Two patients died at the time of follow-up and three were in complete remission. The results of the statistical analysis showed that anterior chamber invasion was correlated with prognosis, and there was significant difference in the decrease in the serum NSE levels after intravenous chemotherapy.
Regular lifelong follow-up of patients with RB is warranted to identify bone metastases earlier. Anterior chamber invasion may be a risk factor. The simultaneous involvement of the bone marrow and cortex is characteristic manifestations in images of RB with bone metastases. Multidisciplinary treatment especially intravenous chemotherapy is useful, at least at the beginning.
视网膜母细胞瘤（RB）是婴幼儿期最常见的眼内恶性肿瘤。本研究评估了复发性RB伴肢体骨转移且无中枢神经系统受累患者的临床和影像学特征、治疗及预后。
回顾性分析2015年1月至2021年1月在北京同仁医院儿科确诊的5例RB伴肢体骨转移患者的临床资料。
纳入3例男性和2例女性（7只眼：4只E组，D组、C组和B组各1只）。最常见症状为疼痛。3例患者有骨髓和淋巴结转移。3例患者有单发骨病变，2例有多发骨病变。受累的主要骨骼为股骨、肱骨、距骨和尺骨。还观察到骨髓和皮质同时受累。4例患者血清神经元特异性烯醇化酶（NSE）水平显著升高，1例轻度升高；初次静脉化疗导致NSE水平下降及骨病变逐渐消退。2例患者在随访时死亡，3例完全缓解。统计分析结果显示前房侵犯与预后相关，静脉化疗后血清NSE水平下降存在显著差异。
有必要对RB患者进行终身定期随访以便更早发现骨转移。前房侵犯可能是一个危险因素。骨髓和皮质同时受累是RB伴骨转移影像学的特征性表现。多学科治疗尤其是静脉化疗至少在开始时是有效的。
