Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.

Michael Dean, Giovana Bendfeldt, Hong Lou, Veronica Giron, Claudia Garrido, Patricia Valverde, Margarita Barnoya, Mauricio Castellanos, Silvia Jiménez-Morales, Sandra Luna-Fineman

Journal: Cancer letters 2014;351(1):59-63

PMID: 24814393

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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 7.0 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.

Published by Elsevier Ireland Ltd.

Address: Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, MD 21702, USA.; Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, MD 21702, USA; Universidad de San Carlos Medical School, Guatemala City, Guatemala.; Leidos Biomedical Research Corporation, Frederick, MD 21702, USA.; Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.; Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, MD 21702, USA; Laboratory of Immunogenomic and Metabolic Diseases, National Institute of Genomic Medicine, Mexico City, Mexico.; Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala; Pediatric Hematology/Oncology/SCT/Cancer Bio, Stanford University School of Medicine, Stanford, CA 94305, USA.

DOI: 10.1016/j.canlet.2014.04.023

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MeSH Terms: Child, Preschool, DNA Methylation, DNA Mutational Analysis, Female, Germ-Line Mutation, Guatemala, Healthcare Disparities, Humans, INDEL Mutation, Incidence, Indians, Central American, Male, Point Mutation, Promoter Regions, Genetic, Proportional Hazards Models, Retinal Neoplasms, Retinoblastoma, Retinoblastoma Protein