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MTAP Gene Deletion

MedGen UID:
1791058
•Concept ID:
C5554617
•
Cell or Molecular Dysfunction
Synonyms: Methylthioadenosine Phosphorylase Gene Deletion; MSAP Gene Deletion; MTAP Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the MTAP gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMTAP Gene Deletion

Professional guidelines

PubMed

Early Clinical Success of MTA-Cooperative PRMT5 Inhibitors for the Treatment of CDKN2A/MTAP-Deleted Cancers.
Mulvaney KM
Cancer Discov 2023 Nov 1;13(11):2310-2312. doi: 10.1158/2159-8290.CD-23-0951. PMID: 37909092
Fragment-Based Discovery of MRTX1719, a Synthetic Lethal Inhibitor of the PRMT5•MTA Complex for the Treatment of MTAP-Deleted Cancers.
Smith CR, Aranda R, Bobinski TP, Briere DM, Burns AC, Christensen JG, Clarine J, Engstrom LD, Gunn RJ, Ivetac A, Jean-Baptiste R, Ketcham JM, Kobayashi M, Kuehler J, Kulyk S, Lawson JD, Moya K, Olson P, Rahbaek L, Thomas NC, Wang X, Waters LM, Marx MA
J Med Chem 2022 Feb 10;65(3):1749-1766. Epub 2022 Jan 18 doi: 10.1021/acs.jmedchem.1c01900. PMID: 35041419
Discovery of AG-270, a First-in-Class Oral MAT2A Inhibitor for the Treatment of Tumors with Homozygous MTAP Deletion.
Konteatis Z, Travins J, Gross S, Marjon K, Barnett A, Mandley E, Nicolay B, Nagaraja R, Chen Y, Sun Y, Liu Z, Yu J, Ye Z, Jiang F, Wei W, Fang C, Gao Y, Kalev P, Hyer ML, DeLaBarre B, Jin L, Padyana AK, Dang L, Murtie J, Biller SA, Sui Z, Marks KM
J Med Chem 2021 Apr 22;64(8):4430-4449. Epub 2021 Apr 8 doi: 10.1021/acs.jmedchem.0c01895. PMID: 33829783

Recent clinical studies

Etiology

Methylthioadenosine phosphorylase inactivation depends on gene deletion in laryngeal squamous cell carcinoma.
Conde L, Vilaseca I, Alós L, Bernal-Sprekelsen M, Cardesa A, Nadal A
Histopathology 2012 Dec;61(6):1082-8. Epub 2012 Sep 28 doi: 10.1111/j.1365-2559.2012.04353.x. PMID: 23020581
Lack of methylthioadenosine phosphorylase expression in mantle cell lymphoma is associated with shorter survival: implications for a potential targeted therapy.
Marcé S, Balagué O, Colomo L, Martinez A, Höller S, Villamor N, Bosch F, Ott G, Rosenwald A, Leoni L, Esteller M, Fraga MF, Montserrat E, Colomer D, Campo E
Clin Cancer Res 2006 Jun 15;12(12):3754-61. doi: 10.1158/1078-0432.CCR-05-2780. PMID: 16778103

Diagnosis

Methylthioadenosine phosphorylase inactivation depends on gene deletion in laryngeal squamous cell carcinoma.
Conde L, Vilaseca I, Alós L, Bernal-Sprekelsen M, Cardesa A, Nadal A
Histopathology 2012 Dec;61(6):1082-8. Epub 2012 Sep 28 doi: 10.1111/j.1365-2559.2012.04353.x. PMID: 23020581
Methylthioadenosine phosphorylase deficiency in Japanese osteosarcoma patients.
Miyazaki S, Nishioka J, Shiraishi T, Matsumine A, Uchida A, Nobori T
Int J Oncol 2007 Nov;31(5):1069-76. PMID: 17912432
A transition state analogue of 5'-methylthioadenosine phosphorylase induces apoptosis in head and neck cancers.
Basu I, Cordovano G, Das I, Belbin TJ, Guha C, Schramm VL
J Biol Chem 2007 Jul 20;282(29):21477-86. Epub 2007 Jun 4 doi: 10.1074/jbc.M702287200. PMID: 17548352
Lack of methylthioadenosine phosphorylase expression in mantle cell lymphoma is associated with shorter survival: implications for a potential targeted therapy.
Marcé S, Balagué O, Colomo L, Martinez A, Höller S, Villamor N, Bosch F, Ott G, Rosenwald A, Leoni L, Esteller M, Fraga MF, Montserrat E, Colomer D, Campo E
Clin Cancer Res 2006 Jun 15;12(12):3754-61. doi: 10.1158/1078-0432.CCR-05-2780. PMID: 16778103
MTAP gene deletion in endometrial cancer.
Wong YF, Chung TK, Cheung TH, Nobori T, Chang AM
Gynecol Obstet Invest 1998;45(4):272-6. doi: 10.1159/000009983. PMID: 9623796

Prognosis

Methylthioadenosine phosphorylase inactivation depends on gene deletion in laryngeal squamous cell carcinoma.
Conde L, Vilaseca I, Alós L, Bernal-Sprekelsen M, Cardesa A, Nadal A
Histopathology 2012 Dec;61(6):1082-8. Epub 2012 Sep 28 doi: 10.1111/j.1365-2559.2012.04353.x. PMID: 23020581
Lack of methylthioadenosine phosphorylase expression in mantle cell lymphoma is associated with shorter survival: implications for a potential targeted therapy.
Marcé S, Balagué O, Colomo L, Martinez A, Höller S, Villamor N, Bosch F, Ott G, Rosenwald A, Leoni L, Esteller M, Fraga MF, Montserrat E, Colomer D, Campo E
Clin Cancer Res 2006 Jun 15;12(12):3754-61. doi: 10.1158/1078-0432.CCR-05-2780. PMID: 16778103

Clinical prediction guides

Methylthioadenosine phosphorylase gene deletions are common in osteosarcoma.
García-Castellano JM, Villanueva A, Healey JH, Sowers R, Cordon-Cardo C, Huvos A, Bertino JR, Meyers P, Gorlick R
Clin Cancer Res 2002 Mar;8(3):782-7. PMID: 11895909

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