U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Cancer cell genotype associated tumor immune microenvironment exhibits differential response to therapeutic STING pathway activation in high-grade serous ovarian cancer.
Shakfa N, Li D, Conseil G, Lightbody ED, Wilson-Sanchez J, Hamade A, Chenard S, Jawa NA, Laight BJ, Afriyie-Asante A, Tyryshkin K, Koebel M, Koti M
J Immunother Cancer 2023 Apr;11(4) doi: 10.1136/jitc-2022-006170. PMID: 37015760Free PMC Article
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

Recent clinical studies

Etiology

Cerebellar phenotypes in germline PTEN mutation carriers.
Gambini D, Ferrero S, Bulfamante G, Pisani L, Corbo M, Kuhn E
Neuropathol Appl Neurobiol 2024 Apr;50(2):e12970. doi: 10.1111/nan.12970. PMID: 38504418
PTEN deficiency potentiates HBV-associated liver cancer development through augmented GP73/GOLM1.
Huang F, Guo J, Zhao N, Hou M, Gai X, Yang S, Cai P, Wang Y, Ma Q, Zhao Q, Li L, Yang H, Jing Y, Jin D, Hu Z, Zha X, Wang H, Mao Y, Liu F, Zhang H
J Transl Med 2024 Mar 8;22(1):254. doi: 10.1186/s12967-024-04976-4. PMID: 38459588Free PMC Article
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
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

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
mTOR inhibition amplifies the anti-lymphoma effect of PI3Kβ/δ blockage in diffuse large B-cell lymphoma.
Xu W, Berning P, Erdmann T, Grau M, Bettazová N, Zapukhlyak M, Frontzek F, Kosnopfel C, Lenz P, Grondine M, Willis B, Lynch JT, Klener P, Hailfinger S, Barry ST, Lenz G
Leukemia 2023 Jan;37(1):178-189. Epub 2022 Nov 9 doi: 10.1038/s41375-022-01749-0. PMID: 36352190Free PMC Article
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 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

Cancer cell genotype associated tumor immune microenvironment exhibits differential response to therapeutic STING pathway activation in high-grade serous ovarian cancer.
Shakfa N, Li D, Conseil G, Lightbody ED, Wilson-Sanchez J, Hamade A, Chenard S, Jawa NA, Laight BJ, Afriyie-Asante A, Tyryshkin K, Koebel M, Koti M
J Immunother Cancer 2023 Apr;11(4) doi: 10.1136/jitc-2022-006170. PMID: 37015760Free PMC Article
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
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 induces an extrahepatic cholangitis-cholangiocarcinoma continuum via aurora kinase A in mice.
Yang Y, Wang J, Wan J, Cheng Q, Cheng Z, Zhou X, Wang O, Shi K, Wang L, Wang B, Zhu X, Chen J, Feng D, Liu Y, Jahan-Mihan Y, Haddock AN, Edenfield BH, Peng G, Hohenstein JD, McCabe CE, O'Brien DR, Wang C, Ilyas SI, Jiang L, Torbenson MS, Wang H, Nakhleh RE, Shi X, Wang Y, Bi Y, Gores GJ, Patel T, Ji B
J Hepatol 2024 Jul;81(1):120-134. Epub 2024 Feb 28 doi: 10.1016/j.jhep.2024.02.018. PMID: 38428643Free PMC Article
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 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

Clinical prediction guides

PTEN deficiency induces an extrahepatic cholangitis-cholangiocarcinoma continuum via aurora kinase A in mice.
Yang Y, Wang J, Wan J, Cheng Q, Cheng Z, Zhou X, Wang O, Shi K, Wang L, Wang B, Zhu X, Chen J, Feng D, Liu Y, Jahan-Mihan Y, Haddock AN, Edenfield BH, Peng G, Hohenstein JD, McCabe CE, O'Brien DR, Wang C, Ilyas SI, Jiang L, Torbenson MS, Wang H, Nakhleh RE, Shi X, Wang Y, Bi Y, Gores GJ, Patel T, Ji B
J Hepatol 2024 Jul;81(1):120-134. Epub 2024 Feb 28 doi: 10.1016/j.jhep.2024.02.018. PMID: 38428643Free PMC Article
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
PTK6 activation at the membrane regulates epithelial-mesenchymal transition in prostate cancer.
Zheng Y, Wang Z, Bie W, Brauer PM, Perez White BE, Li J, Nogueira V, Raychaudhuri P, Hay N, Tonetti DA, Macias V, Kajdacsy-Balla A, Tyner AL
Cancer Res 2013 Sep 1;73(17):5426-37. Epub 2013 Jul 15 doi: 10.1158/0008-5472.CAN-13-0443. PMID: 23856248Free PMC Article

Recent systematic reviews

Predictive and Prognostic Biomarkers for Patients Treated with Anti-EGFR Agents in Lung Cancer: A Systemic Review and Meta-Analysis.
Wang Y, Qu X, Shen HC, Wang K, Liu Q, Du JJ
Asian Pac J Cancer Prev 2015;16(11):4759-68. doi: 10.7314/apjcp.2015.16.11.4759. PMID: 26107237

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...