Retinoblastoma.
Retinoblastoma.
复制标题
DOI：
10.1038/nrdp.2015.21
复制
发表时间：
2015-08-27
期刊：
影响因子：
--
通讯作者：
Gallie BL
中科院分区：
文献类型：
--
作者：
Dimaras H;Corson TW;Cobrinik D;White A;Zhao J;Munier FL;Abramson DH;Shields CL;Chantada GL;Njuguna F;Gallie BL
Retinoblastoma is a rare cancer of the infant retina, which forms when both RB1 alleles mutate in a susceptible retinal cell, likely a cone photoreceptor precursor. Loss of the tumour suppressor functions of the retinoblastoma protein, pRB, leads to uncontrolled cell division and recurrent genomic changes during tumour progression. Although pRB is expressed in virtually all tissues, cone precursors have biochemical and molecular features that may sensitize to RB1 loss to enable tumourigenesis. Retinoblastoma is diagnosed in ~8,000 children each year worldwide. Patient survival is >95% in high-income countries, but <30% globally. However, outcomes are improving through increasing awareness for earlier diagnosis, new guidelines and sharing of expertise. Intra-arterial and intravitreal chemotherapy have emerged as promising methods to salvage eyes. Ongoing international collaborations will replace the multiple different classifications of eye involvement with standardized definitions to consistently assess eligibility, efficacy and safety of treatment options. Life-long follow-up is warranted since survivors of heritable retinoblastoma are at risk for developing second cancers. Defining the molecular consequences of RB1 loss in diverse tissues may open new avenues for treatment and prevention of retinoblastoma as well as second cancers in patients with germline RB1 mutations.
登录
查看更多内容
影响因子：
3.2
作者：
Chantada, Guillermo;Luna-Fineman, Sandra;Doz, Francois
通讯作者：
Doz, Francois
影响因子：
3.1
作者：
Bansal, M;Patel, FD;Sharma, SC
通讯作者：
Sharma, SC
影响因子：
4.1
作者：
Chan, M. P. Y.;Hungerford, J. L.;Plowman, P. N.
通讯作者：
Plowman, P. N.
影响因子：
4.4
作者：
Carcaboso, Angel M.;Chiappetta, Diego A.;Chantada, Guillermo L.
通讯作者：
Chantada, Guillermo L.
影响因子：
3.2
作者：
Chantada, Guillermo L.;Fandino, Adriana C.;Scopinaro, Marcelo
通讯作者：
Scopinaro, Marcelo