Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala

被引：24

作者：

Dean, Michael ^{[1
]}

Bendfeldt, Giovana ^{[1
,2
]}

Lou, Hong ^{[3
]}

Giron, Veronica ^{[4
,5
]}

Garrido, Claudia ^{[4
,5
]}

Valverde, Patricia ^{[4
,5
]}

Barnoya, Margarita ^{[4
,5
]}

Castellanos, Mauricio ^{[4
,5
]}

Jimenez-Morales, Silvia ^{[1
,4
,6
]}

Luna-Fineman, Sandra ^{[4
,5
,7
]}

机构：

[1] NCI, Expt Immunol Lab, Canc & Inflammat Program, Frederick, MD 21702 USA

[2] Univ San Carlos, Sch Med, Guatemala City, Guatemala

[3] Leidos Biomed Res Corp, Frederick, MD 21702 USA

[4] Stanford Univ, Stanford, CA 94305 USA

[5] Unidad Nacl Oncol Pediat, Guatemala City, Guatemala

[6] Natl Inst Genom Med, Lab Immunogen & Metab Dis, Mexico City, DF, Mexico

[7] Stanford Univ, Sch Med, Pediat Hematol Oncol SCT Canc Bio, Stanford, CA 94305 USA

来源：

CANCER LETTERS | 2014年 / 351卷 / 01期

基金：

美国国家卫生研究院;

关键词：

RB1; gene; Mutations; Methylation; Guatemala; Ethnicity; Health disparity; RB1; GENE; CANCER; MUTATIONS; HYPERMETHYLATION; ASSOCIATION; EXPRESSION; FREQUENCY; SPECTRUM;

D O I：

10.1016/j.canlet.2014.04.023

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：59 / 63

页数：5

共 21 条

[1] Abidi O, 2011, MOL VIS, V17, P3541
[2] Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression
Albrecht, P
Ansperger-Rescher, B
Schüler, A
Zeschnigk, M
Gallie, B
Lohmann, DR
[J]. HUMAN MUTATION, 2005, 26 (05) : 437 - 445
[3] CA M.D.E.G., 2008, INF NAC REP GUAT, P57
[4] Hypermethylation of CpG island loci of multiple tumor suppressor genes in retinoblastoma
Cohen, Yoram
Merhavi-Shoharn, Efrat
Avraharn, Revital B.
Frenkel, Shahar
Pe'er, Jacob
Goldenberg-Cohen, Nitza
[J]. EXPERIMENTAL EYE RESEARCH, 2008, 86 (02) : 201 - 206
[5] Incidence of cancer in children residing in ten jurisdictions of the Mexican Republic:: importance of the Cancer registry (a population-based study)
Fajardo-Gutierrez, Arturo
Juarez-Ocana, Servando
Gonzalez-Miranda, Guadalupe
Palma-Padilla, Virginia
Carreon-Cruz, Rogelio
Ortega-Alvarez, Manuel Carlos
Mejia-Arangure, Juan Manuel
[J]. BMC CANCER, 2007, 7 (1)
[6] Frequency of thiopurine S-methyltransferase mutant alleles in indigenous and admixed Guatemalan patients with acute lymphoblastic leukemia
Garrido, Claudia
Giron Santizo, Veronica
Muellers, Petra
Rigaud Soriano, Daphney
Bendfeldt Avila, Giovana
Dean, Michael
Jimenez-Morales, Silvia
[J]. MEDICAL ONCOLOGY, 2013, 30 (01)
[7] Methylation status of RB1 promoter in Indian retinoblastoma patients
Joseph, B
Mamatha, G
Raman, G
Shanmugam, MP
Kumaramanickavel, G
[J]. CANCER BIOLOGY & THERAPY, 2004, 3 (02) : 184 - 187
[8] MUTATION AND CANCER - STATISTICAL STUDY OF RETINOBLASTOMA
KNUDSON, AG
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1971, 68 (04) : 820 - &
[9] Trends in childhood cancer incidence in the US (1992-2004)
Linabery, Amy M.
Ross, Julie A.
[J]. CANCER, 2008, 112 (02) : 416 - 432
[10] Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA
Livide, Gabriella
Epistolato, Maria Carmela
Amenduni, Mariangela
Disciglio, Vittoria
Marozza, Annabella
Mencarelli, Maria Antonietta
Toti, Paolo
Lazzi, Stefano
Hadjistilianou, Theodora
De Francesco, Sonia
D'Ambrosio, Alfonso
Renieri, Alessandra
Ariani, Francesca
[J]. PATHOLOGY & ONCOLOGY RESEARCH, 2012, 18 (03) : 703 - 712

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