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PTEN
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Interpretation 182
Tier 2
PTEN
Variants
PTEN any frameshift
PTEN any deletion
Primary Sites
Thyroid
Tumor Types
Follicular Carcinoma
Papillary Carcinoma
Interpretation

PTEN is an obligate haplo-insufficient tumor suppressor gene and is mutated in a large number of cancers. It encodes a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/mTOR signaling pathway. Cancer-associated alterations in this gene often result in loss of PTEN protein and upregulation of the PI3K/AKT/mTOR pathway. PTEN mutations have been reported in 15% of anaplastic thyroid cancer. Germline mutations of PTEN lead to inherited hamartoma and Cowden syndrome. Patients with Cowden syndrome have an increased risk of developing epithelial thyroid cancer, follicular carcinoma being the most common, of up to 10% compared to <1% in the general population. Clinical trials using PI3K-beta inhibitor are available for patients with PTEN-deficient tumors.

Citations
  1. Yip L Molecular markers for thyroid cancer diagnosis, prognosis, and targeted therapy. J Surg Oncol 2015;111(1):43-50
  2. Xing M Molecular pathogenesis and mechanisms of thyroid cancer. Nat Rev Cancer 2013;13(3):184-99
  3. Gustafson S, et al. Cowden syndrome. Semin Oncol 2007;34(5):428-34
  4. Keniry M, et al. The role of PTEN signaling perturbations in cancer and in targeted therapy. Oncogene 2008;27(41):5477-85
  5. Landa I, et al. Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest 2016;126(3):1052-66
Last updated: 2016-08-31 22:06:12 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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