How to find MTAP deletions
Testing at diagnosis is ideal, but MTAP deletion status can be confirmed at any stage — ensuring no tumor is overlooked.1,2
Routine well-validated methodologies such as NGS, FISH, and IHC showed high concordance, making each effective in determining MTAP status.3
MTAP and CDKN2A are often co-deleted1
CDKN2A loss is not a surrogate for MTAP deletion. For laboratories without MTAP deletion testing capabilities, CDKN2A can be used to identify potential patients with MTAP deletion but cannot definitively detect MTAP deletion.1
Incorporate MTAP testing into routine assessment of tumor samples.
Identify tumor sample
Test and analyze MTAP status through NGS, FISH, or IHC3
Report results that may inform clinical decision making
CDKN2A=cyclin-dependent kinase inhibitor 2A; FISH=fluorescence in-situ hybridization; IHC=immunohistochemistry; MTAP=methylthioadenosine phosphorylase; NGS=next-generation sequencing.
References: 1. Brune MM, Prince SS, Vlajnic T, et al. MTAP as an emerging biomarker in thoracic malignancies. Lung Cancer. 2024. doi:10.1016/j.lungcan.2024.107963 2. Han G, Yang G, Hao D, et al. 9p21 loss confers a cold tumor immune microenvironment and primary resistance to immune checkpoint therapy. Nat Commun. 2021. doi:10.1038/s41467-021-25894-9 3. Huang L, Giampapa L, Montanaro P, et al. Comparison of MTAP loss by immunohistochemistry and MTAP homozygous deletion by next-generation sequencing and DNA fluorescence in-situ hybridization. Poster presentation at AACR 2026. Poster 502.
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