A systematic literature review of MTAP deletions in solid and hematologic Cancers Review


Authors: Clouser, M. C.; Suh, M.; Movva, N.; Hildebrand, J. S.; Pastula, S. T.; Schoehl, M.; Hindoyan, A.; Balasubramanian, A.; Fryzek, J. P.; Yang, S. R.
Review Title: A systematic literature review of MTAP deletions in solid and hematologic Cancers
Abstract: Background: Methylthioadenosine phosphorylase (MTAP) deficiency is observed across multiple cancers and represents an emerging biomarker with therapeutic potential via synthetic lethality with PRMT5 inhibition. This systematic literature review summarizes the prevalence of MTAP deletions or loss of expression and prognostic impacts of MTAP deletions or loss in adult and pediatric patients with specific solid or hematologic cancers. Methods: Following PRISMA methodology, the literature on MTAP deletion or loss in multiple cancer types was reviewed. Prevalence, laboratory testing methods, patient characteristics, and clinical outcomes according to MTAP status were synthesized. Study quality was determined using standard tools. Results: Of the 352 identified studies, 37 reported on MTAP. The majority were retrospective cohorts (N=32; 86%). The most common laboratory test type was NGS, specifically FoundationOne (N=7, 24%). MTAP deletion (loss) prevalence varied across tumor types and were generally lowest in gastric cancer (4%–14%) and highest in glioblastoma (26%–60%). MTAP deletion was correlated with higher prevalence of KRAS. Variation by age, gender, and race/ethnicity were inconsistently reported. Survival outcomes were reported most often for GBM and NSCLC with some studies suggesting worse overall survival among patients with MTAP deletions, although the evidence was heterogeneous. Conclusion: This is the first systematic review to summarize the literature on MTAP deletions or loss of expression across several solid and hematologic cancers. MTAP deletions and/or loss of expression occur in many cancer types, presenting a promising target for pan-cancer therapy. © 2025 Elsevier B.V., All rights reserved.
Keywords: immunohistochemistry; survival; event free survival; protein expression; treatment response; overall survival; single nucleotide polymorphism; gene deletion; review; bevacizumab; cisplatin; disease free survival; polymerase chain reaction; quality control; gene; progression free survival; prevalence; dexamethasone; protein p53; cancer therapy; risk assessment; minimal residual disease; systematic review; glioblastoma; phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase; stomach cancer; down regulation; bile duct carcinoma; cyclin dependent kinase inhibitor 2a; k ras protein; pemetrexed; multiple cancer; hematologic disease; cdkn2a; programmed death 1 ligand 1; homozygous deletions; clinical outcome; cyclin dependent kinase inhibitor 2b; cancer prognosis; high throughput sequencing; 5' methylthioadenosine phosphorylase; mtap; cancer; human; median survival time; mtap gene; whole exome sequencing; solid malignant neoplasm; newcastle-ottawa scale; mouse double minute 2 homolog; co-mutations; prism 10 for mac version 10.4.1; hematologic cancer
Journal Title: Cancer Treatment and Research Communications
Volume: 44
ISSN: 24682942
Publisher: Elsevier B.V.  
Date Published: 2024-12-31
Start Page: 100966
Language: English
DOI: 10.1016/j.ctarc.2025.100966
PROVIDER: scopus
PUBMED: 40729867
DOI/URL:
Notes: Review -- Source: Scopus
Altmetric
Citation Impact
BMJ Impact Analytics
MSK Authors
  1. Soo Ryum Yang
    84 Yang