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CDKN2A Gene Deletion

MedGen UID:
163322
•Concept ID:
C0805508
•
Finding
Synonyms: CDK4I Gene Deletion; CDKN2A Copy Number Loss; CDKN2A Deletion; CDKN2A-p16 Gene Deletion; p14ARF Gene Deletion; p16 Gene Deletion; p16-INK4A Gene Deletion; p16INK4a Gene Deletion; p19ARF Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the CDKN2A gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCDKN2A Gene Deletion

Professional guidelines

PubMed

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
Genomic and Transcriptomic Landscape of Triple-Negative Breast Cancers: Subtypes and Treatment Strategies.
Jiang YZ, Ma D, Suo C, Shi J, Xue M, Hu X, Xiao Y, Yu KD, Liu YR, Yu Y, Zheng Y, Li X, Zhang C, Hu P, Zhang J, Hua Q, Zhang J, Hou W, Ren L, Bao D, Li B, Yang J, Yao L, Zuo WJ, Zhao S, Gong Y, Ren YX, Zhao YX, Yang YS, Niu Z, Cao ZG, Stover DG, Verschraegen C, Kaklamani V, Daemen A, Benson JR, Takabe K, Bai F, Li DQ, Wang P, Shi L, Huang W, Shao ZM
Cancer Cell 2019 Mar 18;35(3):428-440.e5. Epub 2019 Mar 7 doi: 10.1016/j.ccell.2019.02.001. PMID: 30853353
A comprehensive review of paediatric low-grade diffuse glioma: pathology, molecular genetics and treatment.
Ryall S, Tabori U, Hawkins C
Brain Tumor Pathol 2017 Apr;34(2):51-61. Epub 2017 Mar 25 doi: 10.1007/s10014-017-0282-z. PMID: 28342104

Recent clinical studies

Etiology

Frequency and Role of CDKN2A Deletion in High-Risk Pituitary Neuroendocrine Tumors.
Kara M, Tokat F, Pamir MN, Danyeli AE
Endocr Pathol 2020 Jun;31(2):166-173. doi: 10.1007/s12022-020-09609-2. PMID: 32157655
EZH2 expression in gliomas: Correlation with CDKN2A gene deletion/ p16 loss and MIB-1 proliferation index.
Purkait S, Sharma V, Jha P, Sharma MC, Suri V, Suri A, Sharma BS, Sarkar C
Neuropathology 2015 Oct;35(5):421-31. Epub 2015 Jun 12 doi: 10.1111/neup.12201. PMID: 26096306
Concordant loss of MTAP and p16/CDKN2A expression in gastroesophageal carcinogenesis: evidence of homozygous deletion in esophageal noninvasive precursor lesions and therapeutic implications.
Powell EL, Leoni LM, Canto MI, Forastiere AA, Iocobuzio-Donahue CA, Wang JS, Maitra A, Montgomery E
Am J Surg Pathol 2005 Nov;29(11):1497-504. doi: 10.1097/01.pas.0000170349.47680.e8. PMID: 16224217

Diagnosis

A novel method of amplified fluorescent in situ hybridization for detection of chromosomal microdeletions in B cell lymphoma.
Mizuno Y, Chinen Y, Tsukamoto T, Takimoto-Shimomura T, Matsumura-Kimoto Y, Fujibayashi Y, Kuwahara-Ota S, Fujino T, Nishiyama D, Shimura Y, Kobayashi T, Horiike S, Taniwaki M, Kuroda J
Int J Hematol 2019 May;109(5):593-602. Epub 2019 Mar 4 doi: 10.1007/s12185-019-02617-x. PMID: 30830578
EZH2 expression in gliomas: Correlation with CDKN2A gene deletion/ p16 loss and MIB-1 proliferation index.
Purkait S, Sharma V, Jha P, Sharma MC, Suri V, Suri A, Sharma BS, Sarkar C
Neuropathology 2015 Oct;35(5):421-31. Epub 2015 Jun 12 doi: 10.1111/neup.12201. PMID: 26096306
Concordant loss of MTAP and p16/CDKN2A expression in gastroesophageal carcinogenesis: evidence of homozygous deletion in esophageal noninvasive precursor lesions and therapeutic implications.
Powell EL, Leoni LM, Canto MI, Forastiere AA, Iocobuzio-Donahue CA, Wang JS, Maitra A, Montgomery E
Am J Surg Pathol 2005 Nov;29(11):1497-504. doi: 10.1097/01.pas.0000170349.47680.e8. PMID: 16224217

Prognosis

A novel method of amplified fluorescent in situ hybridization for detection of chromosomal microdeletions in B cell lymphoma.
Mizuno Y, Chinen Y, Tsukamoto T, Takimoto-Shimomura T, Matsumura-Kimoto Y, Fujibayashi Y, Kuwahara-Ota S, Fujino T, Nishiyama D, Shimura Y, Kobayashi T, Horiike S, Taniwaki M, Kuroda J
Int J Hematol 2019 May;109(5):593-602. Epub 2019 Mar 4 doi: 10.1007/s12185-019-02617-x. PMID: 30830578
Gene expression profile of aquaporin 1 and associated interactors in malignant pleural mesothelioma.
Jagirdar R, Solenov EI, Hatzoglou C, Molyvdas PA, Gourgoulianis KI, Zarogiannis SG
Gene 2013 Mar 15;517(1):99-105. Epub 2013 Jan 9 doi: 10.1016/j.gene.2012.12.075. PMID: 23313295

Clinical prediction guides

Rebalance of the Polyamine Metabolism Suppresses Oxidative Stress and Delays Senescence in Nucleus Pulposus Cells.
Che H, Ma C, Li H, Yu F, Wei Y, Chen H, Wu J, Ren Y
Oxid Med Cell Longev 2022;2022:8033353. Epub 2022 Feb 7 doi: 10.1155/2022/8033353. PMID: 35178160Free PMC Article
EZH2 expression in gliomas: Correlation with CDKN2A gene deletion/ p16 loss and MIB-1 proliferation index.
Purkait S, Sharma V, Jha P, Sharma MC, Suri V, Suri A, Sharma BS, Sarkar C
Neuropathology 2015 Oct;35(5):421-31. Epub 2015 Jun 12 doi: 10.1111/neup.12201. PMID: 26096306
p16INK4A (CDKN2A) gene deletion is a frequent genetic event in synovial sarcomas.
Subramaniam MM, Noguera R, Piqueras M, Navarro S, López-Guerrero JA, Llombart-Bosch A
Am J Clin Pathol 2006 Dec;126(6):866-74. doi: 10.1309/E2AAY2XXN431WL81. PMID: 17074682

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