Laboratory for Cellular and Molecular Thyroid Research, Division of Endocrinology and Metabolism, The Johns Hopkins University School of Medicine, 1830, East Monument Street, Suite 333, Baltimore, MD 21287, USA.
Endocr Pathol. 2011 Jun;22(2):97-102. doi: 10.1007/s12022-011-9155-x.
Frequent mutations in the GNAQ, MMP8, Akt3, EGFR, and PIK3R1 genes have been reported in human cancers but mostly have not been well examined in thyroid cancer. Selected exons of GNAQ, MMP8, AKT3, EGFR, and PIK3R1 genes were sequenced in various thyroid cancers. We found a G2203A EGFR mutation, resulting in a G735S amino acid change, in one of 21 (5%) papillary thyroid cancer samples. We did not find any mutation in the MMP8 gene, but observed a frequent SNP A259G (K87E) genotype switch in various types of thyroid cancer samples. We did not find any mutation in the GNAQ, AKT3, and PIK3R1 genes in various types of thyroid cancer. No mutation in these genes was found in 12 cell lines derived from various types of thyroid cancer. Therefore, unlike in other cancers, mutations in these genes are uncommon in thyroid cancer.
在人类癌症中经常报道 GNAQ、MMP8、Akt3、EGFR 和 PIK3R1 基因的频繁突变，但在甲状腺癌中大多未得到很好的研究。对各种甲状腺癌中的 GNAQ、MMP8、AKT3、EGFR 和 PIK3R1 基因的选定外显子进行了测序。我们在 21 个（5%）乳头状甲状腺癌样本中的一个样本中发现了 EGFR 基因的 G2203A 突变，导致 G735S 氨基酸变化。我们没有发现 MMP8 基因中的任何突变，但在各种类型的甲状腺癌样本中观察到频繁的 SNP A259G（K87E）基因型转换。我们没有在各种类型的甲状腺癌中发现 GNAQ、AKT3 和 PIK3R1 基因的任何突变。在 12 种源自各种类型的甲状腺癌细胞系中也未发现这些基因的突变。因此，与其他癌症不同，这些基因的突变在甲状腺癌中并不常见。
