The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study

Autor: Lloyd, Philippa, Westcott, Mark, Kaliki, Swathi, Ji, Xunda, Zou, Yihua, Rashid, Riffat, Sultana, Sadia, Sherief, Sadik Taju, Cassoux, Nathalie, Diaz Coronado, Rosdali Yesenia, Garcia Leon, Juan Luis, López, Arturo Manuel Zapata, Polyakov, Vladimir G., Ushakova, Tatiana L., Roy, Soma Rani, Ahmad, Alia, Harby, Lamis Al, Berry, Jesse L., Kim, Jonathan, Polski, Ashley, Astbury, Nicholas J., Bascaran, Covadonga, Blum, Sharon, Bowman, Richard, Burton, Matthew J., Foster, Allen, Gomel, Nir, Keren-Froim, Naama, Madgar, Shiran, Stacey, Andrew W., Mohamed, Ashik, Zondervan, Marcia, Sagoo, Mandeep S., Fabian, Ido Didi, Reddy, M. Ashwin
Zdroj: Eye; April 2023, Vol. 37 Issue: 5 p966-970, 5p
Abstrakt: Background/Objectives: Retinoblastoma is a common childhood intraocular malignancy, the bilateral form of which most commonly results from a de novogermline pathogenic variant in the RB1gene. Both advanced maternal age and decreasing birth order are known to increase the risk of de novogermline pathogenic variants, while the influence of national wealth is understudied. This cohort study aimed to retrospectively observe whether these factors influence the ratio of bilateral retinoblastoma cases compared to unilateral retinoblastoma, thereby inferring an influence on the development of de novogermline pathogenic variants in RB1. Subjects/Methods: Data from 688 patients from 11 centres in 10 countries were analysed using a series of statistical methods. Results: No associations were found between advanced maternal age, birth order or GDP per capita and the ratio of bilateral to unilateral retinoblastoma cases (pvalues = 0.534, 0.201, 0.067, respectively), indicating that these factors do not contribute to the development of a de novopathogenic variant. Conclusions: Despite a lack of a definitive control group and genetic testing, this study demonstrates that advanced maternal age, birth order or GDP per capita do not influence the risk of developing a bilateral retinoblastoma.
Databáze: Supplemental Index