Dean M.,U.S. National Cancer Institute |
Bendfeldt G.,U.S. National Cancer Institute |
Bendfeldt G.,University of San Carlos of Guatemala |
Lou H.,Leidos Biomedical Research Corporation |
And 8 more authors.
Cancer Letters | Year: 2014
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. © 2014.