title: Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.
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.
authors.affiliation: Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, MD 21702, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Dean
authors.affiliation: 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.
authors.forename: Giovana
authors.initials: G
authors.lastname: Bendfeldt
authors.affiliation: Leidos Biomedical Research Corporation, Frederick, MD 21702, USA.
authors.forename: Hong
authors.initials: H
authors.lastname: Lou
authors.affiliation: Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.
authors.forename: Veronica
authors.initials: V
authors.lastname: Giron
authors.affiliation: Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.
authors.forename: Claudia
authors.initials: C
authors.lastname: Garrido
authors.affiliation: Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.
authors.forename: Patricia
authors.initials: P
authors.lastname: Valverde
authors.affiliation: Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.
authors.forename: Margarita
authors.initials: M
authors.lastname: Barnoya
authors.affiliation: Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.
authors.forename: Mauricio
authors.initials: M
authors.lastname: Castellanos
authors.affiliation: 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.
authors.forename: Silvia
authors.initials: S
authors.lastname: Jiménez-Morales
authors.affiliation: 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.
authors.forename: Sandra
authors.initials: S
authors.lastname: Luna-Fineman
mesh_terms: D002675:Child, Preschool; D019175:DNA Methylation; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006166:Guatemala / Q000453:epidemiology; D054625:Healthcare Disparities; D006801:Humans; D054643:INDEL Mutation; D015994:Incidence; D007197:Indians, Central American / Q000235:genetics; D008297:Male; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D016016:Proportional Hazards Models; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000401:mortality*; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics / Q000401:mortality*; D016160:Retinoblastoma Protein / Q000235:genetics
chemical_list: D016160:Retinoblastoma Protein
keywords: Ethnicity; Guatemala; Health disparity; Methylation; Mutations; RB1 gene