|Variant(s)||PIK3CA exon(s) 10, 20, 21 any|
Somatic mutations in PIK3CA are seen in approximately 2% of papillary thyroid carcinoma, poorly differentiated carcinoma, anaplastic carcinoma. Somatic mutations of PIK3CA have been described particularly in advanced and dedifferentiating thyroid tumors. Their prevalence varies from 16 to 23% in anaplastic thyroid carcinomas. They are less frequent in papillary and follicular thyroid carcinomas and the prevalence in medullary thyroid carcinomas remains unknown. Although inhibitors of the PI3K/AKT/mTOR pathway have shown efficacy against thyroid cancer in pre-clinical models, their success in clinical trials remains to be determined.
Nikiforova et al. Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer. J Clin Endocrin Metab 2013 Nov;98(11):E1852-60
Garcia-Rostan et al Mutation of the PIK3CA gene in anaplastic thyroid cancer. Cancer Res. 2005 Nov15;65(22):10199-207
Ricarte-Filho JC et al. Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1. Cancer Res. 2009 Jun 1;69(11):4885-93. doi: 10.1158/0008-5472.CAN-09-0727.
Hou P et al. Genetic alterations and their relationship in the phosphatidylinositol 3-kinase/Akt pathway in thyroid cancer. Clin. Cancer Res. 2007;13:1161–1170
Vu-Phan et al. Genetics and epigenetics of sporadic thyroid cancer. Molecular and cellular endocrinology 386, no. 1 (2014): 55-66.
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