Retinoblastoma: Recent advances
Retinoblastoma: Recent advances
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DOI：
10.1684/bdc.2014.1931
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发表时间：
2014-04-01
影响因子：
1.2
通讯作者：
Aerts, Isabelle
中科院分区：
文献类型：
--
作者：
Jehanne, Mathilde;Brisse, Herve;Aerts, Isabelle
视网膜母细胞瘤是婴儿期最常见的眼内恶性肿瘤，发病率为 1/15,000 至 1/20,000 名新生儿。百分之六十的视网膜母细胞瘤是单侧的，诊断时的中位年龄为两年，并且在大多数情况下不是遗传性的。 40% 的病例为双侧视网膜母细胞瘤，诊断时的中位年龄较早为一年。所有双侧和多灶性单侧形式都是遗传性的，是遗传性癌症易感综合征的一部分。所有患有双侧或家族型的儿童，以及 10% 至 15% 的单侧型儿童，本质上都携带 RB1 基因突变。揭示视网膜母细胞瘤的两种最常见症状是白瞳和斜视。通过眼底镜检查进行诊断，超声和磁共振成像 (MRI) 有助于诊断和评估疾病的进展情况。视网膜母细胞瘤患者的治疗必须考虑到疾病的各个方面（单侧/双侧、大小、定位......）、视力风险以及疾病可能的遗传性质。主要的预后方面仍然是多学科专业团队的过早检测和调整覆盖。对于单侧疾病，摘除术通常仍然是必要的；根据组织学危险因素做出辅助治疗的决定。最近最重要的治疗进展涉及保守治疗，在大多数双侧病例中，建议对至少一只眼睛进行保守治疗：单独激光或与化疗、冷冻疗法或近距离放射治疗相结合。最近，开发了新的保守治疗技术，例如动脉内选择性化疗灌注，旨在保留这些儿童的视觉功能并减少摘除术的数量和外照射放疗的需要。目前，在工业化国家，与视网膜母细胞瘤相关的重要预后良好，但长期生存仍与继发性肿瘤（主要是继发性肉瘤）的发展有关。视网膜母细胞瘤需要多学科护理以及长期的专业随访。有必要就疾病传播的风险和继发性肿瘤的发展风险向患者及其家人提供早期咨询。
Retinoblastoma is the most common intraocular malignancy of infancy with an incidence of 1/15,000 to 1/20,000 births. Sixty percent of retinoblastomas are unilateral, with a median age at diagnosis of two years, and in most cases are not hereditary. Retinoblastoma is bilateral in 40% of cases, with an earlier median age at diagnosis of one year. All bilateral and multifocal unilateral forms are hereditary and are part of a genetic cancer predisposition syndrome. All children with a bilateral or familial form, and 10 to 15% of children with an unilateral form, constitutionally carry an RB1 gene mutation. The two most frequent symptoms revealing retinoblastoma are leukocoria and strabismus. Diagnosis is made by fundoscopy, with ultrasound and magnetic resonance imaging (MRI) contributing both to diagnosis and assessment of the extension of the disease. Treatment of patients with retinoblastoma must take into account the various aspects of the disease (unilateral/bilateral, size, localization...), the risk to vision and the possible hereditary nature of the disease. The main prognostic aspects are still premature detection and adapted coverage by a multi-disciplinary specialized team. Enucleation is still often necessary in unilateral disease; the decision for adjuvant treatment is taken according to the histological risk factors. The most important recent therapeutic advances concern the conservative treatment which is proposed for at least one of the two eyes in most bilateral cases: laser alone or in combination with chemotherapy, cryotherapy or brachytherapy. Recently, the development of new conservative techniques of treatment, such as intra-arterial selective chemotherapy perfusion, aims at preserving visual function in these children and decreasing the number of enucleations and the need for external beam radiotherapy. The vital prognosis related to retinoblatoma is now excellent in industrialized countries, but long-term survival is still related to the development of secondary tumors, mainly secondary sarcoma. Retinoblastoma requires multi-disciplinary care as well as a long term specialized follow-up. Early counseling of patients and their family concerning the risk of transmission of the disease and the risk of development of secondary tumors is necessary.