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PTEN

Interpretations

By Variant(s)

PTEN any frameshift

PTEN any deletion

PTEN any deletion

PTEN any missense

PTEN Y68H

PTEN G165R

PTEN copy number gain

PTEN copy number loss

PTEN any mutation

By Tumor

  • Acinar Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Acinic Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Acute Myeloid Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Adenocarcinoma
    • PTEN any deletion
    • PTEN any frameshift, PTEN any deletion
    • PTEN any deletion, PTEN any missense
    • PTEN Y68H
    • PTEN any frameshift, PTEN any deletion, PTEN any missense
    • PTEN any frameshift, PTEN any deletion, PTEN any missense
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Adenoid Cystic Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Adenosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Ameloblastic Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Anaplastic Large Cell Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Angioimmunoblastic T-Cell Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Angiomatoid Fibrous Histiocytoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Angiomatosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Angiomyolipoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Angiosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Astrocytoma, Anaplastic
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Atypical Chronic Myeloid Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • B Lymphoblastic Leukemia/Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Basal Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Burkitt Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Carcinoid Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Carcinoma
    • PTEN G165R
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Carcinosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Cholangiocarcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chondrosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chordoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Choriocarcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chromophobe Renal Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chronic Lymphocytic Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chronic Myeloid Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chronic Myelomonocytic Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Chronic Neutrophilic Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Classical Hodgkin Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Clear Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Clear Cell Renal Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Craniopharyngioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Dermatofibrosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Desmoplastic Small Round Cell Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Diffuse Large B Cell Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Ductal Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Ependymoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Essential Thrombocythemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Ewing Sarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Fibromatosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Follicular Carcinoma
    • PTEN any frameshift, PTEN any deletion
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Follicular Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Gastrointestinal Stromal Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Germ Cell Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Giant Cell Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Glioblastoma
    • PTEN any deletion
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Glomus Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Granular Cell Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Hairy Cell Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Hemangioendothelioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Hepatocellular Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Histiocytic and Dendritic Cell Neoplasms
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Invasive Ductal Carcinoma
    • PTEN any frameshift, PTEN any deletion, PTEN any missense
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Kaposi Sarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Langerhans Cell Histiocytosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Leiomyoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Leiomyosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Lipoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Liposarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Lobular Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Lymphoplasmacytic Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Malignant Mullerian Mixed Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mantle Cell Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Marginal Zone B Cell Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mast Cell Neoplasm
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • MDS with Ring Sideroblasts
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Medullary Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Medulloblastoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Melanoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Meningioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Merkel Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mesothelioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mucinous Tumors of Appendix
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mucinous Tumors of Ovary
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mucoepidermoid Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Myelodysplastic Syndrome
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Myeloproliferative Neoplasm
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Myxofibrosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Nasopharyngeal Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Neuroblastoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Neuroendocrine Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Neuroendocrine Neoplasm
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • NK Cell Lymphoproliferative Disorder
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • NLPHL
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Non-Small Cell Lung Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Oligodendroglioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Osteosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Papillary Carcinoma
    • PTEN any frameshift, PTEN any deletion
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Papillary Renal Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Peripheral T Cell Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Pheochromocytoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Plasma Cell Disorder
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Polycythemia Vera
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Post-Transplant Lymphoproliferative Disorder
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Primary Myelofibrosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Primitive Neuroectodermal Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Renal Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Reninoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Retinoblastoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Rhabdomyosarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Sarcoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Schwannoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Serous Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Sex Cord Stromal Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Small Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Solid Pseudopapillary Tumor of Pancreas
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Spindle Cell Neoplasm
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Squamous Cell Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • T Cell Lymphoproliferative Disorder
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • T Lymphoblastic Leukemia/Lymphoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • T-Cell LGL Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Thymic Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Thymoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Urothelial Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Tumors of Peripheral Nerves
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Unknown
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Wilms Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Ependymoma, Anaplastic
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Astrocytoma, Pilocytic
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Ganglioglioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Neuroepithelial Neoplasm, NOS
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Pleomorphic Carcinoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Solitary Fibrous Tumor
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Neuroepithelial neoplasm, high grade
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Leukocytosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Thrombocytosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Monocytosis
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Cytopenia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Other Acute Leukemia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Astrocytoma, NOS
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Acute Leukemia of Unspecified Cell Type
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Anemia, Unspecified
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Astrocytoma, Diffusely Infiltrating
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Diffuse Midline Glioma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Infiltrating Glioma, NOS
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Intraductal Papillary Mucinous Neoplasm (IPMN)
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Leukopenia
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Lymphadenopathy
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Lymphocytosis, Symptomatic
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Monoclonal Gammopathy
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mucinous or Serous Cystic Neoplasms of Pancreas
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Mycosis Fungoides, Unspecified Site
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Oligodendroglioma, Anaplastic
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Pleomorphic Xanthoastrocytoma
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Rash and Other Nonspecific Skin Eruption
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Thrombocytopenia, Unspecified
    • PTEN copy number gain, PTEN copy number loss
    • PTEN any mutation
  • Information
  • View History
  • Suggested Revisions
Interpretation 183
Variant(s)PTEN any frameshift
PTEN any deletion
Tumor(s)Adenocarcinoma
Tissue(s)Lung
Tier2
Interpretation

Somatic mutations in PTEN have been found in 4–8% of non-small cell carcinomas (NSCLC) including adenocarcinomas and squamous cell carcinomas. PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. Loss of PTEN is most commonly due to promoter hypermethylation, while homozygous deletion and nonsense mutations with loss of heterozygosity (LOH) may also occur. PTEN mutations may occur in multiple exons. In preclinical studies, PTEN loss is associated with decreased sensitivity of EGFR mutant lung tumors to EGFR TKIs. Clinical trials assessing the efficacy of PI3K inhibitors in PTEN loss are being explored.

Citations

Alphy Rose-James et al. Molecular Markers with Predictive and Prognostic Relevance in Lung Cancer. Lung Cancer International, vol. 2012, Article ID 729532, 12 pages, 2012. doi:10.1155/2012/729532

Martin L. Sos et al. PTEN Loss Contributes to Erlotinib Resistance in EGFR-Mutant Lung Cancer by Activation of Akt and EGFR. Cancer research 69.8 (2009): 3256–3261. PMC. Web. 27 Aug. 2015.

Hollander MC et al. PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nat Rev Cancer. 2011 Apr;11(4):289-301. doi: 10.1038/nrc3037.

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