Trefoil Factor 1 (TFF1) in Retinoblastoma: A Biomarker, Mediator, or Therapeutic Target?

Le résumé fourni par la source

Retinoblastoma is a prevalent pediatric malignant tumour of the retina, primarily caused by biallelic inactivation of the RB1 gene or, less commonly, amplification of the MYCN oncogene. It has a global incidence of approximately 1 in 15,000–18,000 live births and predominantly affects children under five years of age. Trefoil factor 1 (TFF1) is a small, secreted peptide from the trefoil family, mainly expressed in the gastrointestinal mucosa, where it plays an essential role in mucosal protection, repair, and cellular differentiation. Beyond its physiological functions, aberrant TFF1 expression has been implicated in tumour progression and oncogenic signalling across several cancers. TFF1 is not expressed in healthy human retina but is significantly expressed in retinoblastoma tissues, with higher levels correlating with advanced disease stage, high-risk histopathologic features (HRPFs) and metastasis, poor differentiation, and unfavourable prognosis, suggesting a potential role of TFF1 in the pathogenesis and progression of retinoblastoma. Furthermore, in addition to tumour biopsy, its detection in the aqueous humour indicates its potential utility as a non-invasive biomarker for tumour activity and treatment monitoring. Although the precise molecular mechanisms underlying TFF1’s function in retinoblastoma remain unclear, evidence suggests that it may modulate tumour aggressiveness through effects on cell proliferation, apoptosis, and tumour microenvironmental signalling, supporting its promise as a prognostic biomarker and potential therapeutic target. This review consolidates the current advances in the role of TFF1 in retinoblastoma and critically examines its emerging significance as a potential clinical biomarker, molecular mediator, and novel therapeutic target for retinoblastoma.

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