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Cancer Lett. 2014 Aug 28;351(1):59-63. doi: 10.1016/j.canlet.2014.04.023. Epub 2014 May 6.

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

Author information

  • 1Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, MD 21702, USA.
  • 2Laboratory 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.
  • 3Leidos Biomedical Research Corporation, Frederick, MD 21702, USA.
  • 4Stanford University, Stanford, CA 94305, USA; Unidad Nacional de Oncología Pediátrica, Guatemala City, Guatemala.
  • 5Laboratory 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.
  • 6Stanford 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.

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.

KEYWORDS:

Ethnicity; Guatemala; Health disparity; Methylation; Mutations; RB1 gene

PMID:
24814393
[PubMed - indexed for MEDLINE]
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