^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    BIOMARKER:

    MTAP deletion

    i
    Other names: MTAP, Methylthioadenosine Phosphorylase, S-Methyl-5'-Thioadenosine Phosphorylase, MSAP, 5’-Methylthioadenosine Phosphorylase, MTA Phosphorylase, MTAPase, C86fus, Epididymis Secretory Sperm Binding Protein, Epididymis Luminal Protein 249, MeSAdo Phosphorylase, HEL-249, DMSMFH, DMSFH, LGMBF, BDMF
    Entrez ID:
    4507
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    1d
    Study of ISM3412 in Participants With Locally Advanced/Metastatic Solid Tumors (clinicaltrials.gov)
    P1/2, N=114, Recruiting, InSilico Medicine Hong Kong Limited | Phase classification: P1 --> P1/2 | N=80 --> 114
    Phase classification • Enrollment change • First-in-human
    |
    MTAP (Methylthioadenosine Phosphorylase)
    |
    MTAP deletion
    3d
    Safety and Efficacy of BMS-986504 in Unresectable Malignant Peripheral Nerve Sheath Tumor (clinicaltrials.gov)
    P1/2, N=17, Not yet recruiting, Ankit Mangla, MD | Initiation date: Apr 2026 --> Aug 2026
    Trial initiation date
    |
    MTAP (Methylthioadenosine Phosphorylase)
    |
    MTAP deletion
    |
    navlimetostat (BMS-986504)
    7d
    Peri-Implant Gingival Undifferentiated SWI/SNF Complex-Deficient Tumor with Molecularly Confirmed Biallelic SMARCA4 Inactivation: Diagnostic Pitfalls and Genomic Characterization. (PubMed, Diagnostics (Basel))
    The patient initiated carboplatin-paclitaxel and achieved a partial response at one month with further shrinkage by four months. Rapidly enlarging peri-implant gingival masses should prompt timely biopsy and SWI/SNF marker testing when histology is high-grade and lineage-ambiguous. NGS-based molecular profiling confirms diagnosis, elucidates mechanism, and reveals actionable targets in this rare tumor class.
    Journal • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KEAP1 (Kelch Like ECH Associated Protein 1) • MTAP (Methylthioadenosine Phosphorylase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MAT2A (Methionine Adenosyltransferase 2A)
    |
    TP53 mutation • TMB-H • CDKN2A deletion • MTAP deletion • KEAP1 mutation
    |
    Oncomine™ Comprehensive Assay Plus
    |
    carboplatin • paclitaxel
    15d
    Febuxostat enhances the anti-tumor efficacy of 2-fluoroadenine and 5'-methylthioadenosine in MTAP-deleted cancer. (PubMed, bioRxiv)
    Xenograft studies using MTAP- HT1080 and MiaPaCa-2 cell lines have shown that a 2FA/MTA/FX cocktail can cause tumor regression in vivo . These studies suggest that the combination of 2FA/MTA/FX should be explored as a treatment for MTAP- cancer.
    Journal
    |
    MTAP (Methylthioadenosine Phosphorylase)
    |
    MTAP deletion
    15d
    Clinicopathological significance of methylthioadenosine phosphorylase (MTAP) expression loss in hepatobiliary tumors. (PubMed, Hum Pathol)
    About 20% of hepatobiliary carcinomas showed MTAP expression loss, which may benefit from MTAP-directed therapies. MTAP expression loss may be a diagnostic marker for malignant hepatobiliary tumors. MTAP-deleted CCAs and cHCC-CCAs may represent a distinct group of hepatobiliary tumors.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion • MTAP deletion
    15d
    Convergence of KRAS Mutations and MTAP Loss in Pancreatic Cancer: Genomic Landscape and Clinical Implications. (PubMed, Clin Cancer Res)
    Comprehensive genomic profiling is essential for patients with PAAD and carries both prognostic and predictive value. MTAP loss KRAS-mutant PAAD represents a subgroup of immune-excluded PAADs with a poor prognosis.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • MTAP (Methylthioadenosine Phosphorylase)
    |
    KRAS mutation • KRAS G12D • MTAP deletion • KRAS G12
    |
    BostonGene Tumor Portrait™ Test
    16d
    A Study Comparing Navlimetostat (BMS-986504) in Combination With Nab-paclitaxel and Gemcitabine Versus Placebo in Combination With Nab-paclitaxel and Gemcitabine in Participants With Untreated Metastatic Pancreatic Ductal Adenocarcinoma With Homozygous MTAP Deletion (MountainTAP-30) (clinicaltrials.gov)
    P2/3, N=470, Active, not recruiting, Bristol-Myers Squibb | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    MTAP (Methylthioadenosine Phosphorylase)
    |
    MTAP deletion
    |
    gemcitabine • albumin-bound paclitaxel • navlimetostat (BMS-986504)
    16d
    LKB1 inactivation elicits an NNMT-mediated methyl sink and confers dependence on PRMT5 in lung cancer. (PubMed, Cell Rep)
    Functionally, PRMT5 inhibition induces senescence in LKB1-deficient cells and confers vulnerability to navitoclax, synergistically blunting tumor growth in vivo. Collectively, we identify PRMT5 as an actionable therapeutic vulnerability in LKB1-deficient lung cancer, and propose LKB1 status/NNMT expression as potential biomarkers for PRMT5 inhibition. These findings may expand the clinical utility of PRMT5-targeted therapies beyond MTAP-deleted cancers.
    Journal
    |
    STK11 (Serine/threonine kinase 11) • MTAP (Methylthioadenosine Phosphorylase) • NNMT (Nicotinamide N-Methyltransferase) • SIK1 (Salt Inducible Kinase 1)
    |
    MTAP deletion
    |
    navitoclax (ABT 263)
    18d
    A Study Evaluating Anvumetostat in Combination With Other Therapies in Participants With Advanced Gastrointestinal, Biliary Tract, or Pancreatic Cancers With Homozygous Methylthioadenosine Phosphorylase (MTAP)-Deletion (MTAPESTRY 103) (clinicaltrials.gov)
    P1, N=120, Active, not recruiting, Amgen | Recruiting --> Active, not recruiting | N=350 --> 120 | Trial completion date: Feb 2029 --> Nov 2026 | Trial primary completion date: Feb 2027 --> Oct 2026
    Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date
    |
    MTAP (Methylthioadenosine Phosphorylase)
    |
    RAS mutation • MTAP deletion
    |
    gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • oxaliplatin • irinotecan • leucovorin calcium • anvumetostat (AMG 193) • daraxonrasib (RMC-6236)
    22d
    A Phase 2 Study of Anvumetostat in Participants With MTAP-deleted Advanced NSCLC (MTAPESTRY 201) (clinicaltrials.gov)
    P2, N=61, Active, not recruiting, Amgen | Recruiting --> Active, not recruiting | N=200 --> 61 | Trial completion date: Nov 2030 --> Nov 2026 | Trial primary completion date: Nov 2028 --> Oct 2026
    Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date
    |
    MTAP (Methylthioadenosine Phosphorylase)
    |
    MTAP deletion
    |
    anvumetostat (AMG 193)
    22d
    Anvumetostat Alone or in Combination With Other Therapies in Subjects With Advanced Thoracic Tumors With Homozygous MTAP-deletion (Master Protocol) (MTAPESTRY 104). (clinicaltrials.gov)
    P1, N=49, Active, not recruiting, Amgen | Recruiting --> Active, not recruiting | N=500 --> 49 | Trial completion date: Oct 2031 --> Nov 2026 | Trial primary completion date: Oct 2028 --> Oct 2026
    Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date
    |
    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • MTAP (Methylthioadenosine Phosphorylase)
    |
    PD-L1 expression • KRAS mutation • KRAS G12C • MTAP deletion • KRAS G12
    |
    Keytruda (pembrolizumab) • carboplatin • paclitaxel • Lumakras (sotorasib) • pemetrexed • anvumetostat (AMG 193)
    23d
    MTAP Deficiency as a Metabolic Vulnerability in Cancer: Implications for Synthetic Lethal Therapy. (PubMed, Cancer Sci)
    In this review, we provide a comprehensive overview of the physiological roles of the MTAP-PRMT5 axis and the mechanistic principles underlying this synthetic lethality in MTAP-deficient cells. Furthermore, drawing upon insights from the analysis of real-world patient data, we discuss the clinical and molecular characteristics of MTAP-deleted tumors, review the landscape of ongoing clinical trials, and explore novel therapeutic strategies.
    Review • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    MTAP deletion