Imagine a test that could help doctors spot retinoblastoma, a serious eye cancer in children, more accurately. A recent study looked at Trefoil Family Factor 1, or TFF1, and found that children with higher levels of this protein had a lower risk of having the disease in both eyes. They were also more likely to be diagnosed after the age of three. While TFF1 didn’t show significant links to other factors like sex or how far the cancer had spread, its presence is intriguing because it’s not found in normal eye tissue. This means TFF1 could be a valuable tool for doctors in diagnosing and understanding retinoblastoma better. As research continues, this could lead to more tailored treatments for young patients facing this challenging diagnosis.
Could a simple test help identify retinoblastoma risk in children?
Plain Language Summary
What this means for you:
Higher TFF1 levels in retinoblastoma may lower the risk of both eyes being affected and lead to later diagnosis. What this means for you:
Higher TFF1 levels in retinoblastoma may lower the risk of both eyes being affected and lead to later diagnosis. View Original Abstract ↓
PURPOSE: This study aims to evaluate the potential of Trefoil Family Factor 1 (TFF1) as a biomarker for the diagnosis and prognosis of retinoblastoma.
METHODS: Our protocol was prospectively registered on PROSPERO (CRD420251126954). On July 08, 2025, we conducted a comprehensive literature search across PubMed, Scopus, Web of Science, Embase, Cochrane, and Google Scholar. We included all studies that measured TFF1 expression in retinoblastoma patients and assessed its potential as a biomarker for disease severity. The primary outcomes were laterality, sex, and age at diagnosis. Secondary outcomes included tumor invasion and disease staging. Statistical analysis was performed using RStudio. A random-effects model was used for the analysis, and heterogeneity was assessed using the I². The risk of bias for the included studies was evaluated using the Newcastle-Ottawa Scale for Retrospective cohort studies, while the NIH Quality Assessment Tool for Case Series Studies was used for case series studies.
RESULTS: Of the 152 articles initially identified, only 5 met the inclusion criteria, comprising a total of 521 patients with retinoblastoma. Patients with higher TFF1 expression exhibited a significantly lower risk of bilateral involvement (RR = 0.57; 95% CI: 0.39, 0.84; p = 0.0041) and a significantly higher association with being diagnosed after the age of 3 years (RR = 4.26; 95% CI: 1.33, 13.64; p = 0.01). No statistically significant associations were observed with sex (RR = 0.89; 95% CI: 0.74,1.07; p = 0.2), choroid invasion (RR = 0.99; 95% CI: 0.9,1.08; p = 0.76) or optic nerve invasion including no invasion (RR = 0.75; 95% CI: 0.47,1.21; p = 0.24), pre-laminar invasion (RR = 1.13; 95% CI: 0.75,1.7; p = 0.55) or post laminar invasion (RR = 1.04; 95% CI: 0.89,1.21; p = 0.61).
CONCLUSION: Retinoblastoma tumors with higher TFF1 expression were associated with a reduced risk of bilateral involvement and an increased likelihood of diagnosis after the age of 3 years. Although the associations with choroidal and optic nerve invasion were not statistically significant, TFF1 remains a promising candidate biomarker for the diagnosis and prognosis of retinoblastoma, particularly due to its absence in normal ocular tissue. Further high-quality studies are required to validate the clinical utility of TFF1 as a reliable diagnostic and prognostic marker in retinoblastoma.