The Vision Center, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90027, USA.
Genome Med. 2012 Feb 24;4(2):15. doi: 10.1186/gm314.
The role that retinoblastoma has played in our understanding of cancer biology could hardly have been imagined 40 years ago when this disease was a rare curiosity, of interest primarily because of its variable laterality, occasional dominant inheritance, frequent lethality and embyronal origin. The discovery of its cause (biallelic loss of RB1) did not offer insight to improved management. However, the recent discovery of aberrant expression of the gene encoding spleen tyrosine kinase (SYK) subsequent to widespread methylation abnormalities in retinoblastoma suggests a potential new therapy for the disease. There is more to the story, however.
40 年前，当这种疾病罕见且令人好奇时，人们很难想象视网膜母细胞瘤在癌症生物学理解中所扮演的角色，其令人感兴趣的主要原因是其变异性的侧位性、偶尔的显性遗传、高致死率和胚胎起源。对其病因（RB1 的双等位基因缺失）的发现并没有为改善管理提供任何启示。然而，最近在视网膜母细胞瘤中广泛的甲基化异常后发现编码脾酪氨酸激酶（SYK）的基因异常表达，这表明该疾病可能有新的潜在治疗方法。然而，还有更多的故事。
