Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2112618 | Cancer Letters | 2014 | 5 Pages |
Abstract
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 7.0Â 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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Authors
Michael Dean, Giovana Bendfeldt, Hong Lou, Veronica Giron, Claudia Garrido, Patricia Valverde, Margarita Barnoya, Mauricio Castellanos, Silvia Jiménez-Morales, Sandra Luna-Fineman,