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GENE:

MTAP (Methylthioadenosine Phosphorylase)

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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
4d
High KAP1 expression promotes pleural mesothelioma cell proliferation and metastasis. (PubMed, Int J Biol Markers)
Conversely, KAP1 expression was significantly negatively correlated with MTAP and MSLN. GSEA reveals KAP1-associated enrichment of DNA repair, cell cycle, and proteostasis pathways in TCGA-MESO.ConclusionKAP1 is highly expressed in PM and functions as an oncogene-like regulator, enhancing tumor cell growth and aggressiveness.Clinical trial registration2023-28.
Journal
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TP53 (Tumor protein P53) • CCND1 (Cyclin D1) • MTAP (Methylthioadenosine Phosphorylase) • MSLN (Mesothelin) • SHOX2 (SHOX Homeobox 2)
8d
Factors predictive of progression in lesions categorised as well-differentiated papillary mesothelial tumour of the pleura, tunica vaginalis and peritoneum: a scoping review. (PubMed, Cancer Treat Res Commun)
This scoping review provides insights into the current understanding of WDPMTs and highlights the paucity of published literature on disease progression, with only 10 relevant articles identified over a two-decade period. WDMPT and papillary mesothelioma in situ (MIS) morphologically are indistinguishable but biologically distinct entities. BAP1 loss on immunohistochemistry (IHC), and multifocality are factors associated with risk of progression to diffuse mesothelioma. Testing for BAP1 and MTAP is mandatory for diagnosis. We suggest that WDPMT-like lesions with BAP1 and/or MTAP loss should be classified as papillary MIS.
Review • Journal
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MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1)
9d
A Study of PEP08 in Patients With MTAP-Del Advanced or Metastatic Solid Tumors (clinicaltrials.gov)
P1, N=40, Recruiting, PharmaEngine | Not yet recruiting --> Recruiting
Enrollment open • First-in-human
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
17d
Prevalence and Actionability of MTAP Loss in Oncogene-Driven Lung Cancer. (PubMed, bioRxiv)
PRMT5 inhibitor activity is independent of TKI exposure, driver alteration, and SDMA expression and enhanced by addition of TKI. These findings support clinical evaluation of PRMT5 inhibitor + TKI combinations for advanced NSCLC.
Journal
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • MTAP (Methylthioadenosine Phosphorylase)
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KRAS mutation • EGFR mutation • ALK rearrangement • MTAP deletion
17d
Case Report: IGFBP5-ALK fusion-positive case of high-grade endometrial stromal sarcoma with response to ALK-targeted therapy. (PubMed, Front Oncol)
After failure of gemcitabine/docetaxel chemotherapy, next-generation sequencing identified an IGFBP5-ALK fusion (breakpoint: IGFBP5 exon 1 - ALK exon 19), a TERT promoter mutation, and a homozygous CDKN2A/CDKN2B/MTAP deletion. This case highlights the first documented response to an ALK inhibitor in ALK-rearranged HG-ESS. The findings underscore the importance of comprehensive molecular profiling in identifying targetable alterations in rare sarcomas and support the use of iruplinalkib as an effective therapeutic option in this setting.
Journal
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ALK (Anaplastic lymphoma kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BCOR (BCL6 Corepressor) • IGFBP5 (Insulin Like Growth Factor Binding Protein 5)
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ALK positive • ALK rearrangement • ALK fusion • CDKN2A deletion • MTAP deletion
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gemcitabine • docetaxel • Qi Xinke (iruplinalkib)
19d
Prognostic Significance of Abnormal MTAP and p16 Expression in Gastrointestinal Stromal Tumors (GISTs). (PubMed, Appl Immunohistochem Mol Morphol)
Overexpression as well as loss of MTAP and p16 expression correlated with the presence of epithelioid histology (either pure or mixed with a spindle cell component), higher grade and pT-stage, necrosis, higher NCCN risk groups, and widespread disease at presentation. Overexpression as well as loss of MTAP and p16 expression predicts shortened progression-free survival and is associated with various known poor prognostic clinicopathologic parameters.
Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase)
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CDKN2A deletion
19d
New P1 trial
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MTAP (Methylthioadenosine Phosphorylase)
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MTAP deletion
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Lynparza (olaparib) • navlimetostat (BMS‐986504)
22d
A Study of AMG 193 in Participants With Advanced MTAP-null Solid Tumors (MTAPESTRY 101) (clinicaltrials.gov)
P1/2, N=329, Active, not recruiting, Amgen | Recruiting --> Active, not recruiting | N=649 --> 329
Enrollment closed • Enrollment change
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase)
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docetaxel • AMG 193
26d
The Diagnostic and Prognostic Role of Combined p16 and MTAP Immunohistochemistry in Melanocytic Tumors of Uncertain Malignant Potential: A Comprehensive Review and Clinical Practice Analysis. (PubMed, Int J Mol Sci)
Combined p16/MTAP IHC provides a synergistic, biologically grounded approach that refines diagnostic accuracy in MELTUMPs. This dual-marker algorithm promotes a shift from purely morphology-based evaluation toward a reproducible, molecularly informed classification, improving both diagnostic confidence and patient management.
Review • Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase)
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CDKN2A deletion
28d
Adenosine receptors on the immuno-oncology expressway: TIME, perspectives, and translation. (PubMed, Front Immunol)
Therapeutic cancer vaccines are a new modality in this premise. Finally, an integrated overview of this pathway, along with TIME dynamics, illustrates the barriers and opportunities of combining adenosine signaling inhibitors in clinical trials.
Review • Journal • PD(L)-1 Biomarker • IO biomarker
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MTAP (Methylthioadenosine Phosphorylase) • CD73 (5'-Nucleotidase Ecto) • SLC29A1 (Solute Carrier Family 29 Member 1) • ENTPD1 (Ectonucleoside Triphosphate Diphosphohydrolase 1)
28d
Mesothelial Lesions of the Testis: A Review. (PubMed, Adv Anat Pathol)
Architecturally more complex forms within this spectrum exist and have been labelled as having "uncertain malignant potential." Malignant mesothelioma of the tunica vaginalis is an uncommon but aggressive tumor that may show loss of BAP1 or MTAP immunostaining, supporting a distinct molecular pathogenesis. This review summarizes the clinicopathologic, immunohistochemically, and molecular features of mesothelial lesions of the paratestis, emphasizing their morphologic overlap, diagnostic pitfalls, and evolving framework for classification.
Journal
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MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1) • CDC42 (Cell Division Cycle 42)
1m
Journal • Real-world evidence • IO biomarker
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TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • MTAP (Methylthioadenosine Phosphorylase) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NF2 (Neurofibromin 2) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • KDM5C (Lysine Demethylase 5C)