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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPTEN Deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - PTEN 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: 37015760 Free 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: 31838203 Free 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

See all (4)

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: 38459588 Free 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: 37577760 Free 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

See all (21)

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: 36352190 Free 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: 26799286 Free 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: 24994750 Free PMC Article

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Therapy

Cancer cell genotype associated tumor immune microenvironment exhibits differential response to therapeutic STING pathway activation in high-grade serous ovarian cancer.

mTOR inhibition amplifies the anti-lymphoma effect of PI3Kβ/δ blockage in diffuse large B-cell lymphoma.

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: 26655726 Free PMC Article

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Prognosis

PTEN deficiency exposes a requirement for an ARF GTPase module for integrin-dependent invasion in ovarian cancer.

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: 35857445 Free 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

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Clinical prediction guides

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 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: 35857445 Free PMC Article

PTEN deficiency mediates a reciprocal response to IGFI and mTOR inhibition.

See all (45)