TNF-α Quantification in Formalin-Fixed Paraffin-Embedded Tissues as a Predictive Biomarker in Ulcerative Colitis.
Anna Viola, Walter Giuseppe Giordano, Rasmus Goll, Emanuela Germanà, Vincenzo Fiorentino, Valeria Zuccalà, Gabriele Ricciardi, Mariagiovanna Ballato, Pietro Tralongo, Antonio Ieni, Guido Fadda, Giuseppe Giuffrè, Maurizio Martini, Walter Fries
Abstract
Open AccessObjectives: Anti-TNF-α therapies have transformed the management of Inflammatory Bowel Disease (IBD), yet a substantial proportion of patients fail to respond, highlighting the urgent need for predictive biomarkers. Mucosal TNF-α mRNA quantification in fresh biopsies has shown promise but showed several problems for routine clinical use. This study aimed to validate a clinically feasible method for TNF-α quantification in formalin-fixed paraffin-embedded (FFPE) tissues and to assess its correlation with established measures of disease activity. Methods: FFPE and matched fresh-frozen biopsies from 54 ulcerative colitis patients were analyzed. Total RNA was extracted from FFPE sections, and TNF-α RNA was quantified by RT-qPCR and compared with fresh tissue expression levels. Molecular data were correlated with clinical (pMayo), endoscopic (Mayo Endoscopic Score, MES), and histological (Geboes) indices. Results: TNF-α expression in FFPE samples strongly correlated with fresh tissue levels (r = 0.83, p < 0.0001). High TNF-α expression in FFPE tissue was significantly associated with active endoscopic mucosal disease (MES ≥ 1; OR 28, 95% CI 3.31-237; p < 0.0001) and with histological inflammation (Geboes ≥ 3.1; OR 0.12, 95% CI 0.02-0.59; p = 0.009). Fresh tissue TNF-α levels showed similar associations. Clinical parameters such as age, sex, and pMayo score did not significantly correlate with mucosal TNF-α expression. RT-qPCR quantification of TNF-α in FFPE tissue is a reliable, cost-effective surrogate for fresh biopsy analysis and correlates strongly with endoscopic and histological disease activity. Conclusions: This method offers a practical approach for integrating molecular biomarkers into routine pathology workflows, supporting the implementation of personalized treatment strategies in IBD.