Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.
Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.
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DOI：
10.1016/j.canlet.2014.04.023
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发表时间：
2014-08-28
期刊：
影响因子：
9.7
通讯作者：
Luna-Fineman, Sandra
中科院分区：
文献类型：
--
作者：
Dean, Michael;Bendfeldt, Giovana;Lou, Hong;Giron, Veronica;Garrido, Claudia;Valverde, Patricia;Barnoya, Margarita;Castellanos, Mauricio;Jimenez-Morales, Silvia;Luna-Fineman, Sandra
对危地马拉一家儿科转诊医院327例连续病例的分析显示，视网膜母细胞瘤占所有癌症的9.4%，估计发病率为每百万儿童7.0例，高于美国或欧洲。家族病例的数量很低，由于诊断晚、病情晚期、进展迅速和死亡率高，土著儿童的情况差别很大。18例患者中发现9种生殖系突变；两个已知的和五个新的突变。在13%的肿瘤中发现了RB1的高甲基化。早期诊断程序可以在更早的年龄识别病例，并改善视网膜母细胞瘤在不同人群中的预后。
Analysis of 327 consecutive cases at a pediatric referral hospital of Guatemala reveals that retinoblastoma accounts for 9.4% of all cancers and the estimated incidence is 7.0 cases/million children, higher than the United States or Europe. The number of familial cases is low, and there is a striking disparity in indigenous children due to late diagnosis, advanced disease, rapid progression and elevated mortality. Nine germline mutations in 18 patients were found; two known and five new mutations. Hypermethylation of RB1 was identified in 13% of the tumors. An early diagnosis program could identify cases at an earlier age and improve outcome of retinoblastoma in this diverse population.
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