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PTEN Deficiency

MedGen UID:
1663719
•Concept ID:
C4727277
•
Finding
Synonyms: MMAC1 Deficiency; Mutated in Multiple Advanced Cancers 1 Deficiency; Phosphatase and Tensin Homolog Deficiency; Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN Deficiency; PTEN Tyrosine Phosphatase Deficiency; PTEN1 Deficiency; TEP1 Deficiency

Definition

A condition of decreased or absent presence or activity of phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, which is associated with multiple hamartoma syndrome (Cowden syndrome) and increased risk for development of several types of malignant cancers, including head and neck, breast, lung and prostate cancer and glioblastoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPTEN Deficiency

Professional guidelines

PubMed

Combination of KRAS gene silencing and PI3K inhibition for ovarian cancer treatment.
Kim MJ, Lee SJ, Ryu JH, Kim SH, Kwon IC, Roberts TM
J Control Release 2020 Feb;318:98-108. Epub 2019 Dec 12 doi: 10.1016/j.jconrel.2019.12.019. PMID: 31838203Free PMC Article
Concomitant Inhibition of PI3Kβ and BRAF or MEK in PTEN-Deficient/BRAF-Mutant Melanoma Treatment: Preclinical Assessment of SAR260301 Oral PI3Kβ-Selective Inhibitor.
Bonnevaux H, Lemaitre O, Vincent L, Levit MN, Windenberger F, Halley F, Delorme C, Lengauer C, Garcia-Echeverria C, Virone-Oddos A
Mol Cancer Ther 2016 Jul;15(7):1460-71. Epub 2016 May 12 doi: 10.1158/1535-7163.MCT-15-0496. PMID: 27196754
BMN 673, a novel and highly potent PARP1/2 inhibitor for the treatment of human cancers with DNA repair deficiency.
Shen Y, Rehman FL, Feng Y, Boshuizen J, Bajrami I, Elliott R, Wang B, Lord CJ, Post LE, Ashworth A
Clin Cancer Res 2013 Sep 15;19(18):5003-15. Epub 2013 Jul 23 doi: 10.1158/1078-0432.CCR-13-1391. PMID: 23881923Free PMC Article

Recent clinical studies

Etiology

PTEN deficiency exposes a requirement for an ARF GTPase module for integrin-dependent invasion in ovarian cancer.
Nikolatou K, Sandilands E, Román-Fernández A, Cumming EM, Freckmann E, Lilla S, Buetow L, McGarry L, Neilson M, Shaw R, Strachan D, Miller C, Huang DT, McNeish IA, Norman JC, Zanivan S, Bryant DM
EMBO J 2023 Sep 18;42(18):e113987. Epub 2023 Aug 14 doi: 10.15252/embj.2023113987. PMID: 37577760Free PMC Article
PTEN Deficiency Facilitates Exosome Secretion and Metastasis in Cholangiocarcinoma by Impairing TFEB-mediated Lysosome Biogenesis.
Jiang TY, Shi YY, Cui XW, Pan YF, Lin YK, Feng XF, Ding ZW, Yang C, Tan YX, Dong LW, Wang HY
Gastroenterology 2023 Mar;164(3):424-438. Epub 2022 Nov 25 doi: 10.1053/j.gastro.2022.11.025. PMID: 36436593
Intracellular delivery of the PTEN protein using cationic lipidoids for cancer therapy.
Altınoğlu SA, Wang M, Li KQ, Li Y, Xu Q
Biomater Sci 2016 Nov 15;4(12):1773-1780. doi: 10.1039/c6bm00580b. PMID: 27748775
Evolving novel anti-HER2 strategies.
Jones KL, Buzdar AU
Lancet Oncol 2009 Dec;10(12):1179-87. doi: 10.1016/S1470-2045(09)70315-8. PMID: 19959074
Phosphatase and tensin homologue deficiency in glioblastoma confers resistance to radiation and temozolomide that is reversed by the protease inhibitor nelfinavir.
Jiang Z, Pore N, Cerniglia GJ, Mick R, Georgescu MM, Bernhard EJ, Hahn SM, Gupta AK, Maity A
Cancer Res 2007 May 1;67(9):4467-73. doi: 10.1158/0008-5472.CAN-06-3398. PMID: 17483362

Diagnosis

PTEN deficiency facilitates gemcitabine efficacy in cancer by modulating the phosphorylation of PP2Ac and DCK.
Jiang TY, Cui XW, Zeng TM, Pan YF, Lin YK, Feng XF, Tan YX, Yuan ZG, Dong LW, Wang HY
Sci Transl Med 2023 Jul 12;15(704):eadd7464. doi: 10.1126/scitranslmed.add7464. PMID: 37437018
PTEN deficiency facilitates the therapeutic vulnerability to proteasome inhibitor bortezomib in gallbladder cancer.
Jiang TY, Feng XF, Fang Z, Cui XW, Lin YK, Pan YF, Yang C, Ding ZW, Zhang YJ, Tan YX, Wang HY, Dong LW
Cancer Lett 2021 Mar 31;501:187-199. Epub 2020 Nov 18 doi: 10.1016/j.canlet.2020.11.016. PMID: 33220333
PTEN deficiency sensitizes endometrioid endometrial cancer to compound PARP-PI3K inhibition but not PARP inhibition as monotherapy.
Bian X, Gao J, Luo F, Rui C, Zheng T, Wang D, Wang Y, Roberts TM, Liu P, Zhao JJ, Cheng H
Oncogene 2018 Jan 18;37(3):341-351. Epub 2017 Sep 25 doi: 10.1038/onc.2017.326. PMID: 28945226Free PMC Article
PTEN deficiency promotes macrophage infiltration and hypersensitivity of prostate cancer to IAP antagonist/radiation combination therapy.
Armstrong CW, Maxwell PJ, Ong CW, Redmond KM, McCann C, Neisen J, Ward GA, Chessari G, Johnson C, Crawford NT, LaBonte MJ, Prise KM, Robson T, Salto-Tellez M, Longley DB, Waugh DJ
Oncotarget 2016 Feb 16;7(7):7885-98. doi: 10.18632/oncotarget.6955. PMID: 26799286Free PMC Article
PTEN deficiency mediates a reciprocal response to IGFI and mTOR inhibition.
Patel M, Gomez NC, McFadden AW, Moats-Staats BM, Wu S, Rojas A, Sapp T, Simon JM, Smith SV, Kaiser-Rogers K, Davis IJ
Mol Cancer Res 2014 Nov;12(11):1610-20. Epub 2014 Jul 3 doi: 10.1158/1541-7786.MCR-14-0006. PMID: 24994750Free PMC Article

Therapy

Senescence Reprogramming by TIMP1 Deficiency Promotes Prostate Cancer Metastasis.
Guccini I, Revandkar A, D'Ambrosio M, Colucci M, Pasquini E, Mosole S, Troiani M, Brina D, Sheibani-Tezerji R, Elia AR, Rinaldi A, Pernigoni N, Rüschoff JH, Dettwiler S, De Marzo AM, Antonarakis ES, Borrelli C, Moor AE, Garcia-Escudero R, Alajati A, Attanasio G, Losa M, Moch H, Wild P, Egger G, Alimonti A
Cancer Cell 2021 Jan 11;39(1):68-82.e9. Epub 2020 Nov 12 doi: 10.1016/j.ccell.2020.10.012. PMID: 33186519
PTEN status determines chemosensitivity to proteasome inhibition in cholangiocarcinoma.
Jiang TY, Pan YF, Wan ZH, Lin YK, Zhu B, Yuan ZG, Ma YH, Shi YY, Zeng TM, Dong LW, Tan YX, Wang HY
Sci Transl Med 2020 Sep 23;12(562) doi: 10.1126/scitranslmed.aay0152. PMID: 32967970
The PTEN tumor suppressor gene and its role in lymphoma pathogenesis.
Wang X, Huang H, Young KH
Aging (Albany NY) 2015 Dec;7(12):1032-49. doi: 10.18632/aging.100855. PMID: 26655726Free PMC Article
PI(3)king apart PTEN's role in cancer.
Zhang S, Yu D
Clin Cancer Res 2010 Sep 1;16(17):4325-30. Epub 2010 Jul 8 doi: 10.1158/1078-0432.CCR-09-2990. PMID: 20622047
Evolving novel anti-HER2 strategies.
Jones KL, Buzdar AU
Lancet Oncol 2009 Dec;10(12):1179-87. doi: 10.1016/S1470-2045(09)70315-8. PMID: 19959074

Prognosis

PTEN deficiency facilitates gemcitabine efficacy in cancer by modulating the phosphorylation of PP2Ac and DCK.
Jiang TY, Cui XW, Zeng TM, Pan YF, Lin YK, Feng XF, Tan YX, Yuan ZG, Dong LW, Wang HY
Sci Transl Med 2023 Jul 12;15(704):eadd7464. doi: 10.1126/scitranslmed.add7464. PMID: 37437018
Interrogating glioma-M2 macrophage interactions identifies Gal-9/Tim-3 as a viable target against PTEN-null glioblastoma.
Ni X, Wu W, Sun X, Ma J, Yu Z, He X, Cheng J, Xu P, Liu H, Shang T, Xi S, Wang J, Zhang J, Chen Z
Sci Adv 2022 Jul 8;8(27):eabl5165. doi: 10.1126/sciadv.abl5165. PMID: 35857445Free PMC Article
Squalene Epoxidase Metabolic Dependency Is a Targetable Vulnerability in Castration-Resistant Prostate Cancer.
Shangguan X, Ma Z, Yu M, Ding J, Xue W, Qi J
Cancer Res 2022 Sep 2;82(17):3032-3044. doi: 10.1158/0008-5472.CAN-21-3822. PMID: 35767703
PTEN in the maintenance of genome integrity: From DNA replication to chromosome segregation.
Hou SQ, Ouyang M, Brandmaier A, Hao H, Shen WH
Bioessays 2017 Oct;39(10) Epub 2017 Sep 11 doi: 10.1002/bies.201700082. PMID: 28891157Free PMC Article
PTEN deficiency promotes macrophage infiltration and hypersensitivity of prostate cancer to IAP antagonist/radiation combination therapy.
Armstrong CW, Maxwell PJ, Ong CW, Redmond KM, McCann C, Neisen J, Ward GA, Chessari G, Johnson C, Crawford NT, LaBonte MJ, Prise KM, Robson T, Salto-Tellez M, Longley DB, Waugh DJ
Oncotarget 2016 Feb 16;7(7):7885-98. doi: 10.18632/oncotarget.6955. PMID: 26799286Free PMC Article

Clinical prediction guides

PTEN deficiency facilitates gemcitabine efficacy in cancer by modulating the phosphorylation of PP2Ac and DCK.
Jiang TY, Cui XW, Zeng TM, Pan YF, Lin YK, Feng XF, Tan YX, Yuan ZG, Dong LW, Wang HY
Sci Transl Med 2023 Jul 12;15(704):eadd7464. doi: 10.1126/scitranslmed.add7464. PMID: 37437018
PTEN Deficiency in Tubo-Ovarian High-Grade Serous Carcinoma is Associated with Poor Progression-Free Survival and is Mutually Exclusive with CCNE1 Amplification.
Zhang X, Wang A, Han L, Liang B, Allard G, Diver E, Howitt BE
Mod Pathol 2023 May;36(5):100106. Epub 2023 Feb 1 doi: 10.1016/j.modpat.2023.100106. PMID: 36805789
Interrogating glioma-M2 macrophage interactions identifies Gal-9/Tim-3 as a viable target against PTEN-null glioblastoma.
Ni X, Wu W, Sun X, Ma J, Yu Z, He X, Cheng J, Xu P, Liu H, Shang T, Xi S, Wang J, Zhang J, Chen Z
Sci Adv 2022 Jul 8;8(27):eabl5165. doi: 10.1126/sciadv.abl5165. PMID: 35857445Free PMC Article
PTEN deficiency confers colorectal cancer cell resistance to dual inhibitors of FLT3 and aurora kinase A.
Liu Y, Yang EJ, Zhang B, Miao Z, Wu C, Lyu J, Tan K, Poon TCW, Shim JS
Cancer Lett 2018 Nov 1;436:28-37. Epub 2018 Aug 14 doi: 10.1016/j.canlet.2018.08.011. PMID: 30118842
PTEN deficiency mediates a reciprocal response to IGFI and mTOR inhibition.
Patel M, Gomez NC, McFadden AW, Moats-Staats BM, Wu S, Rojas A, Sapp T, Simon JM, Smith SV, Kaiser-Rogers K, Davis IJ
Mol Cancer Res 2014 Nov;12(11):1610-20. Epub 2014 Jul 3 doi: 10.1158/1541-7786.MCR-14-0006. PMID: 24994750Free PMC Article

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