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PTEN
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Interpretation 264
Tier 2
PTEN
Variants
PTEN G165R
Primary Sites
Parathyroid
Tumor Types
Carcinoma
Interpretation

PTEN is a tumor suppressor gene, located on chromosome 10q23. It encodes a lipid and protein phosphatase that negatively regulates the PI3K/AKT/mTOR pathway. Cancer-associated alterations in this gene often result in loss of PTEN protein and upregulation of the PI3K/AKT/mTOR pathway. Germline mutations of PTEN lead to inherited hamartoma and Cowden syndrome while somatic mutations are also known to occur in multiple malignancies. PTEN alterations are rare and not well characterized in parathyroid tumors. One study reported loss of heterozygosity of PTEN in 7 of 14 parathyroid carcinomas. PTEN p.G165R variant is a reported pathogenic variant that causes glycine to arginine substitution at codon 165 affecting NH2-terminal phosphatase domain. This variant has been reported previously in endometrial and CNS tumors in COSMIC data base. Functional studies demonstrate that individuals harboring this variant have decreased levels of the functional PTEN protein when compared to wild type controls. However, its clinical significance remains to be fully elucidated.

Citations
  1. McCoy KL, et al. The clinical importance of parathyroid atypia: is long-term surveillance necessary? Surgery 2015;158(4):929-35; discussion 935-6
  2. Han SY, et al. Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. Cancer Res 2000;60(12):3147-51
  3. Yip L, et al. Loss of heterozygosity of selected tumor suppressor genes in parathyroid carcinoma. Surgery 2008;144(6):949-55; discussion 954-5
  4. Kasaian K, et al. Complete genomic landscape of a recurring sporadic parathyroid carcinoma. J Pathol 2013;230(3):249-60
  5. McCoy KL, et al. The clinical importance of parathyroid atypia: is long-term surveillance necessary? Surgery 2015;158(4):929-35; discussion 935-6
Last updated: 2016-05-05 13:20:17 UTC
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