Gallie Brenda L, Zhao Junyang, Vandezande Kirk, White Abigail, Chan Helen S L
Retinoblastoma Program, Hospital for Sick Children and Applied Molecular Oncology, Ontario Cancer Institute/Princess Margaret Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Pediatr Blood Cancer. 2007 Dec;49(7 Suppl):1083-90. doi: 10.1002/pbc.21350.
The RB1 gene is important in all human cancers. Studies of human retinoblastoma point to a rare retinal cell with extreme dependency on RB1 for initiation but not progression to full malignancy. In developed countries, genetic testing within affected families can predict children at high risk of retinoblastoma before birth; chemotherapy with local therapy often saves eyes and vision; and mortality is 4%. In less developed countries where 92% of children with retinoblastoma are born, mortality reaches 90%. Global collaboration is building for the dramatic change in mortality that awareness, simple expertise and therapies could achieve in less developed countries.
RB1基因在所有人类癌症中都很重要。对人类视网膜母细胞瘤的研究表明,有一种罕见的视网膜细胞,在肿瘤起始阶段对RB1极度依赖,但在发展为完全恶性肿瘤的过程中并非如此。在发达国家,对患病家庭进行基因检测可以在出生前预测出患视网膜母细胞瘤风险高的儿童;局部治疗联合化疗通常能保住眼睛和视力;死亡率为4%。在视网膜母细胞瘤患儿92%出生于此的欠发达国家,死亡率高达90%。全球正在开展合作,以实现因提高认知、掌握简单专业知识和采用相关治疗方法而可能在欠发达国家带来的死亡率大幅下降。