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Updated: Jul 12, 2025

Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Neonatal per- and polyfluoroalkyl substance exposure in relation to retinoblastoma
Yixin Chen1, Kimberly C Paul2, Douglas I Walker3
1Department of Epidemiology, UCLA Fielding School of Public Health, Los Angeles, CA, USA.
Insights
Neonatal exposure to perfluorooctanesulfonic acid (PFOS) and perfluorooctanoic acid (PFOA) may increase the risk of retinoblastoma in children. Higher PFOS levels were associated with increased odds of retinoblastoma, particularly in specific subgroups.
Area of Science:
- Environmental Health
- Pediatric Oncology
- Toxicology
Background:
- Neonatal exposure to per- and polyfluoroalkyl substances (PFAS) can negatively impact child development.
- PFAS are linked to hormonal disruption, neurotoxicity, and immunotoxicity in children.
- This study explores the relationship between neonatal PFAS exposure and retinoblastoma risk.
Purpose of the Study:
- To investigate the association between PFAS levels in neonatal dried blood spots and retinoblastoma risk.
- To examine specific PFAS compounds, including PFOS, PFOA, and PFNA.
- To analyze these associations in relation to maternal birthplace (US-born vs. Mexico-born).
Main Methods:
- A case-control study involving 501 retinoblastoma cases and 899 controls.
- PFAS (PFOS, PFOA, PFNA) levels were measured in neonatal dried blood spots.
- Logistic regression analysis was used to assess the association between PFAS levels and retinoblastoma risk, considering subtypes and maternal birthplace.
Main Results:
- Elevated PFOS levels at birth were associated with increased odds of overall and unilateral retinoblastoma.
- For children of Mexico-born mothers, higher PFOS levels correlated with increased odds of overall and bilateral retinoblastoma.
- For children of US-born mothers, higher PFOS and PFOA levels showed associations with increased retinoblastoma risk, particularly unilateral and overall, respectively.
Conclusions:
- PFOS and PFOA exposure in neonates may be linked to an increased risk of retinoblastoma in California-born children.
- The findings highlight potential environmental risk factors for pediatric cancers.
- Further research is warranted to confirm these associations and explore underlying mechanisms.
Background:
Neonatal per- and polyfluoroalkyl substance (PFAS) exposure can disrupt hormonal homeostasis and induce neuro- and immunotoxicity in children. In this exploratory study, we investigated associations between PFAS levels in neonatal dried blood spots and retinoblastoma risk.
Materials And Methods:
This study included 501 retinoblastoma cases born from 1983 to 2011 and 899 controls frequency-matched by birth year (20:1 matching ratio), born to 755 US-born and 366 Mexico-born mothers in California. Perfluorooctanesulfonic acid (PFOS), perflurooctanoic acid (PFOA), and perfluorononanoic acid (PFNA) feature intensities were identified from neonatal blood spots from California newborn Genetic Disease Screening Program. Using logistic regression, we assessed whether an interquartile range (IQR) increase of PFAS levels or having above-mean levels of PFAS in blood affects retinoblastoma risk overall or its subtypes (i.e., unilateral, bilateral). We assessed children of US-born and Mexico-born mothers, separately.
Results And Discussion:
Among all children, above-mean PFOS levels at birth increased the odds of retinoblastoma overall by 29% (95% Confidence Interval (CI): 1.00, 1.67) and unilateral retinoblastoma by 42% (95% CI: 1.03, 1.97). For children of Mexico-born mothers, we estimated the highest odds of retinoblastoma overall (adjusted odds ratio (aOR): 1.67; 95% CI: 1.06, 2.66) and bilateral retinoblastoma (aOR: 2.06; 95% CI: 1.12, 3.92) with above-mean PFOS levels. Among children of US-born mothers, higher PFOS levels increased the odds of unilateral retinoblastoma by 15% (95% CI: 0.99, 1.35) for each IQR increase and by 71% among children with above-mean PFOS levels (95% CI: 1.04, 2.90). In addition, for children of US-born mothers, PFOA increased the odds of retinoblastoma overall (aOR: 1.41; 95% CI: 1.00, 2.02 for above-mean levels, aOR: 1.06; 95% CI: 0.98, 1.16 per IQR increase). PFNA was not associated with retinoblastoma risk.
Conclusions:
Our results suggested that PFOS and PFOA might contribute to retinoblastoma risk in children born in California.

