PMKB

Interpretations

By Variant(s)

PTEN any frameshift

PTEN any deletion

PTEN any deletion

PTEN any missense

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 G129R
- PTEN copy number gain, PTEN copy number loss
- PTEN any mutation
- PTEN P169H

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
- 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

Eosinophilia
- PTEN copy number gain, PTEN copy number loss
- PTEN any mutation

Myelodysplastic/Myeloproliferative Neoplasm
- PTEN copy number gain, PTEN copy number loss
- PTEN any mutation

Myeloid Neoplasm
- PTEN copy number gain, PTEN copy number loss
- PTEN any mutation

Polycythemia
- PTEN copy number gain, PTEN copy number loss
- PTEN any mutation

Interpretation 183

Variant(s)	PTEN any frameshift PTEN any deletion
Tumor(s)	Adenocarcinoma
Tissue(s)	Lung
Tier	2

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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