Abstract 2766: Advanced paternal age as a possible risk factor for retinoblastoma

Abstract

Retinoblastoma is a pediatric tumor arising in the retina with an incidence of 1 in 15000 to 18000 live births. Retinoblastoma is initiated by the inactivation of both the alleles of RB1 and it may be inherited or sporadic. There are several possible risk factors suggested for sporadic retinoblastoma including advanced paternal age.We evaluated the father's age in 42 children with retinoblastoma attending the Aravind Eye Hospital, Madurai, India from Mar 2013 to Feb 2014 retrospectively. Fathers with age 40 and above at the time of conception were included in the analysis. Patients with a positive family history were excluded from the analysis. Genetic analysis of RB1 was carried out in the tumor and blood samples of these patients of older father and their family.There were 5 patients (3 unilateral and 2 bilateral) having fathers with age 40 years and above. Genetic analysis identified RB1 mutations in the tumor samples of 4 patients and these mutations were not present in the blood samples of patient and family members. Since all these patients had somatic mutations, the involvement of paternal age impact was ruled out. In blood sample of one bilateral patient, we found de novo germline RB1 mutation possibly suggesting a role of advanced paternal age.In conclusion, the advanced paternal age seems to be a minor risk factor for retinoblastoma. Further study of large number of patients may provide a better understanding of the impact of advanced paternal age in retinoblastoma. Citation Format: Vanniarajan Ayyasamy, Namrata Gaikwad, Thirumalairaj Kannan, Aloysius A. Abraham, Veerappan Muthukkaruppan, Usha Kim. Advanced paternal age as a possible risk factor for retinoblastoma. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2766. doi:10.1158/1538-7445.AM2015-2766