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BIOMARKER:

MTAP deletion

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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:
Related biomarkers:
23d
Molecular and Clinical Determinants of Targeted Therapy Treatment in Biliary Tract Cancer. (PubMed, Clin Cancer Res)
This comprehensive molecular profiling study illustrates the real-world utility and limitations of targeted next-generation sequencing of BTC and affirms the use of precision medicine in patients with these diseases. Characterization of genomic heterogeneity and therapeutic resistance has the potential to inform ongoing drug development efforts for BTC.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MET (MET proto-oncogene, receptor tyrosine kinase) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • MDM2 (E3 ubiquitin protein ligase) • SMAD4 (SMAD family member 4) • NTRK (Neurotrophic receptor tyrosine kinase)
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MET amplification • MTAP deletion
23d
Enrollment open • First-in-human
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
27d
Genomic landscape and tumor immune microenvironment of osteosarcoma: Bridging mechanistic insights to precision therapeutics. (PubMed, Bone Rep)
The transition from universal treatment to precision therapy in OTS requires a multi-omics approach for patient stratification. Future strategies must focus on overcoming the physical and immunological barriers of the TIME, reprogramming immunosuppressive cells, and exploiting novel targets like B7-H3 and MTAP deletion to improve outcomes for patients with advanced disease.
Review • Journal
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • MTAP (Methylthioadenosine Phosphorylase) • LRRC1 (Leucine Rich Repeat Containing 1) • SIRPA (Signal Regulatory Protein Alpha)
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MTAP deletion
1m
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
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
1m
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
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
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navlimetostat (BMS-986504)
1m
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
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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)
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TP53 mutation • TMB-H • CDKN2A deletion • MTAP deletion • KEAP1 mutation
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Oncomine™ Comprehensive Assay Plus
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carboplatin • paclitaxel
2ms
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
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
2ms
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
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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CDKN2A deletion • MTAP deletion
2ms
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
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KRAS (KRAS proto-oncogene GTPase) • MTAP (Methylthioadenosine Phosphorylase)
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KRAS mutation • KRAS G12D • MTAP deletion • KRAS G12
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BostonGene Tumor Portrait™ Test
2ms
Enrollment closed
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
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gemcitabine • albumin-bound paclitaxel • navlimetostat (BMS-986504)
2ms
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
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STK11 (Serine/threonine kinase 11) • MTAP (Methylthioadenosine Phosphorylase) • NNMT (Nicotinamide N-Methyltransferase) • SIK1 (Salt Inducible Kinase 1)
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MTAP deletion
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navitoclax (ABT 263)
2ms
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
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MTAP (Methylthioadenosine Phosphorylase)
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RAS mutation • MTAP deletion
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gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • oxaliplatin • irinotecan • leucovorin calcium • anvumetostat (AMG 193) • daraxonrasib (RMC-6236)