Beyond Mesothelioma: From Diagnostic Biomarker to Therapeutic Opportunity—The Emerging Role of MTAP in Cancer
Anna Diluvio, Stefano Lucà, Lucia Iavarone, Valeria Masola, Alfonso Fiorelli, Floriana Morgillo, Giuseppe D’Abbronzo, Renato FrancoMethylthioadenosine phosphorylase (MTAP) loss is an emerging biomarker in several human malignancies, mainly due to its frequent co-deletion with CDKN2A on chromosome 9p21. Beyond its diagnostic value, MTAP deficiency has important biological consequences, including metabolic reprogramming, immune microenvironment modulation, and increased dependency on PRMT5-related pathways. This review summarizes the current evidence on MTAP alterations across different tumor types. The role of MTAP immunohistochemistry as a practical surrogate for CDKN2A homozygous deletion is discussed, together with its advantages and interpretative limitations. In addition, the potential predictive relevance of MTAP loss for immunotherapy, antifolate-based treatments, and novel PRMT5-targeted strategies is explored. Overall, MTAP assessment represents a promising tool in modern diagnostic pathology and precision oncology, bridging morphology, molecular alterations, and therapeutic decision-making.