Ossandón D, Zanolli M, López J P, Benavides F, Pérez V, Repetto G M
Departamento de Oftalmología, Hospital San Juan de Dios, Santiago, Chile; Departamento de Oftalmología, Clínica Alemana de Santiago, Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.
Departamento de Oftalmología, Clínica Alemana de Santiago, Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.
Arch Soc Esp Oftalmol. 2016 Aug;91(8):379-84. doi: 10.1016/j.oftal.2016.02.013. Epub 2016 Mar 22.
To report the benefits of genetic diagnosis in patients with retinoblastoma.
Observational study. Patients with retinoblastoma and their families were included. Demographic and clinical data were recorded. Blood and tumour samples were obtained. Next generation sequencing was performed on the samples. When deletion 13 q syndrome was suspected, cytogenetics microarray was performed (Cytoscan® HD, Affymetrix, Santa Clara, CA, USA), with a high density chip of 1.9 million of non-polymorphic probes and 750 thousand SNP probes.
Of the 7 cases were analysed 4 were male. The mean age at diagnosis was 21 months (range 5-36). Three cases had bilateral retinoblastoma, and 4 unilateral. None had family history. In all patients, blood was analysed, and a study was performed on the tissue from 2 unilateral enucleated tumours, in which 6 mutations were identified, all de novo. Just one was novel (c.164delC; case 1). One case of unilateral tumour revealed blood mosaicism, showing that his condition was inheritable, and that there is a high risk of developing retinoblastoma in the unaffected eye. The patient also has an increased risk of presenting with other primary tumours.
Molecular diagnosis of RB1 in patients with retinoblastoma impacts on the decision process, costs, treatment, and prognosis of patients, as well as their families.
报告视网膜母细胞瘤患者基因诊断的益处。
观察性研究。纳入视网膜母细胞瘤患者及其家属。记录人口统计学和临床数据。采集血液和肿瘤样本。对样本进行二代测序。当怀疑存在13q综合征缺失时，进行细胞遗传学微阵列检测（Cytoscan® HD，Affymetrix，美国加利福尼亚州圣克拉拉），使用包含190万个非多态性探针和75万个单核苷酸多态性探针的高密度芯片。
分析的7例患者中4例为男性。诊断时的平均年龄为21个月（范围5 - 36个月）。3例为双侧视网膜母细胞瘤，4例为单侧。均无家族史。对所有患者进行了血液分析，并对2例单侧眼球摘除肿瘤的组织进行了研究，其中鉴定出6个突变，均为新发突变。仅1个是新突变（c.164delC；病例1）。1例单侧肿瘤患者显示血液嵌合体，表明其病情具有遗传性，且未受影响的眼睛发生视网膜母细胞瘤的风险很高。该患者发生其他原发性肿瘤的风险也增加。
视网膜母细胞瘤患者的RB1分子诊断会影响患者及其家属的决策过程、费用、治疗和预后。
