From an epidemiologic perspective, retinoblastoma is one of the most interesting childhood tumors to study. Retinoblastoma is a primitive neuroectodermal tumor, and its occurrence in early childhood suggests that incidence can be associated with events affecting development of neuroectodermal tissues during the fetal period. Furthermore, it exists in two genetically distinct forms associated with differing (though not mutually exclusive) clinical presentations (see chapters 3 and 4). This allows the formulation of two distinct, though parallel, mechanisms for disease development. Additionally, there is considerable geographic variation in incidence, suggesting differential genetic susceptibility or environmental exposure(s). The combination of these three factors: a defined and relatively limited temporal window for development; two genetically distinct forms arriving, via different genetic pathways, to essentially identical histologic presentations; and the geographic variation in incidence suggest several handles/angles through which one could examine associations and risk factors for development of this disease. Despite these facts, and due in large part to the rarity of the disease, little is understood about the factors that culminate in the relatively well understood cell cycle and apoptotic pathway defects that define retinoblastoma at a molecular level.
Much has been published regarding the molecular changes that occur during the development of retinoblastoma, and recently, more reports have become available regarding incidence, survival, and treatment in countries outside of northern North America and Europe. Results from these studies point to some potential risk factors underlying disease development; however, few studies have been done to specifically elucidate these factors. Thus, this discussion of the epidemiology of retinoblastoma will, out of necessity, focus on disease incidence and on those few hypotheses that have been explored using population based study methodology.
KeywordsHuman Papilloma Virus Primitive Neuroectodermal Tumor Bilateral Disease Unilateral Disease Human Papilloma Virus Status
The author gratefully acknowledges the assistance of Aisha Siebert, MPH, and of Drs M. Veronica Ponce, Arturo Fajardo Gutierrez, A. Krishnakumar, and Desiree Debling, who generously shared data in advance of publication. In addition, the author is appreciative for assistance from Dr M. Ramirez Ortiz, and Dr W. Gauss. This work was supported in part by NIH 1 R01 CA98180 and ACS RSG CNE-104953.
- Cordier S, Mandereau L, Preston-Martin S, Little J, Lubin F, Mueller B, Holly E, Filippini G, Peris-Bonet R, McCredie M, Choi NW, Arsla A (2001) Parental occupations and childhood brain tumors: result of an international case-control study. Cancer Causes Control 12:865-874PubMedCrossRefGoogle Scholar
- Fajardo-Gutiérrez A, Juárez-Ocaña S, González-Miranda G, Palma-Padilla V, Carreón-Cruz R, Ortega-Álvarez MC, Mejía-Arangure JM (2007) Incidence of cancer in children residing in ten jurisdictions of the Mexican republic: Importance of the Cancer registry (a population-based study). BMC Cancer 19:7-68Google Scholar
- Hiyama E, Iehara T, Sugimoto T, Fukuzawa M, Hayashi Y, Sasaki F, Sugiyama M, Kondo S, Yoneda A, Yamaoka H, Tajiri T, Akazawa K, Ohtaki M (2008) Effectiveness of screening for neuroblastoma at 6 months of age: a retrospective population-based cohort study. Lancet 371:1173-1180PubMedCrossRefGoogle Scholar
- MacCarthy A, Draper GJ, Steliarova-Foucher E, Kingston JE (2006) Retinoblastoma incidence and survival in European children (1978-1997). Report from the Automated Childhood Cancer Information System project. Eur J Cancer 42:2092-2102Google Scholar
- Mohan A, Venkatesan N, Kandalam M, Pasricha G, Acharya P, Khetan V, Gopal L, Sharma T, Biswas J, Krishnakumar S (2009) Detection of human papillomavirus DNA in retinoblastoma samples: a preliminary study. J Pediatr Hematol Oncol 31:8-13Google Scholar
- Montoya-Fuentes H, de la Paz Ramirez-Munoz M, Villar-Calvo V, Suarez-Rincon AE, Ornelas-Aguirre JM, Vazquez-Camacho G, Orbach-Arbouys S, Bravo-Cuellar A, Sanchez-Corona J (2003) Identification of DNA sequences and viral proteins of 6 human papilloma virus types in retinoblastoma tissue. Anticancer Res 23:2853-2862PubMedGoogle Scholar
- Orjuela M, Lecona E, Salazar A, Leal C, Abramson D, Mueller N (2000) Risk factors for the development of sporadic retinoblastoma in Mexico. In: Proceedings of the 91st annual meeting of the American association for cancer research, 2298Google Scholar
- Orjuela MA, Titievsky L, Liu X, Ramirez-Ortiz M, Ponce-Castaneda V, Lecona E, Molina E, Beaverson K, Abramson DH, Mueller NE (2005) Fruit and vegetable intake during pregnancy and risk for development of sporadic retinoblastoma. Cancer Epidemiol Biomarkers Prev 14:1433-1440PubMedCrossRefGoogle Scholar
- Parkin DM, Kramarova E, Draper GJ, Masuyer E, Michaelis J, Neglia JP, Qureshi S, Stiller CA (1998) International incidence of childhood cancer. International Agency for Research on Cancer, Lyon, FranceGoogle Scholar
- Ponce-Castneda MV, Torres-Lopez J, Burgueno-Ferreira J, Bravo JC, Ramon G, Hernandez-Angeles A, Fernandez-Mendez K, Leon-Garcia D, Bautista-DeLucio VM, Ramierz-Ortiz M, Cabrera-Munoz ML, Sadowinky-Pine S, Ramirez J, Coello G, Mendoza-Rodriguez V, Lopez-Casillas F, Orjuela M (2008) Molecular evidence implicating HPV involvement in human retinoblastoma pathogenesis. In: Proceedings of ISGEDR 2008Google Scholar
- Seregard S, Lundell G, Svedberg H, Kivela T (2004) Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: advantages of birth control analysis. Ophthalmology 111:1228-1232Google Scholar
- Yamamoto K, Ohta S, Ito E, Hayashi Y, Asami T, Mabuchi O, Higashigawa M, Tanimura M (2002) Marginal decrease in mortality and marked increase in incidence as a result of neuroblastoma screening at 6 months of age: cohort study in seven prefectures in Japan. J Clin Oncol 20:1209-1214PubMedCrossRefGoogle Scholar
- Yip BH, Pawitan Y, Czene K (2006) Parental age and risk of childhood cancers: a population-based cohort study from Sweden. Int J Epidemiol 35:1495-1503Google Scholar