甲状腺癌中不常见的 GNAQ、MMP8、AKT3、EGFR 和 PIK3R1 突变。
Uncommon GNAQ, MMP8, AKT3, EGFR, and PIK3R1 mutations in thyroid cancers.
机构信息
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.
出版信息
Endocr Pathol. 2011 Jun;22(2):97-102. doi: 10.1007/s12022-011-9155-x.
Abstract
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.
摘要
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。
相似文献
1
Uncommon GNAQ, MMP8, AKT3, EGFR, and PIK3R1 mutations in thyroid cancers.甲状腺癌中不常见的 GNAQ、MMP8、AKT3、EGFR 和 PIK3R1 突变。
Endocr Pathol. 2011 Jun;22(2):97-102. doi: 10.1007/s12022-011-9155-x.
2
Mutational and immunohistochemical study of the PI3K/Akt pathway in papillary thyroid carcinoma in Greece.希腊的甲状腺乳头癌中 PI3K/Akt 通路的突变和免疫组化研究。
Endocr Pathol. 2010 Jun;21(2):90-100. doi: 10.1007/s12022-010-9112-0.
3
GNAq mutations are not identified in papillary thyroid carcinomas and hyperfunctioning thyroid nodules.GNAq 突变未在甲状腺乳头状癌和功能性甲状腺结节中被检出。
Endocr Pathol. 2010 Dec;21(4):250-2. doi: 10.1007/s12022-010-9129-4.
4
PIK3R1 underexpression is an independent prognostic marker in breast cancer.PIK3R1基因低表达是乳腺癌的一个独立预后标志物。
BMC Cancer. 2013 Nov 14;13:545. doi: 10.1186/1471-2407-13-545.
5
Mutational analysis of key EGFR pathway genes in Chinese breast cancer patients.中国乳腺癌患者表皮生长因子受体（EGFR）关键信号通路基因的突变分析
Asian Pac J Cancer Prev. 2012;13(11):5599-603. doi: 10.7314/apjcp.2012.13.11.5599.
6
The Role of Mutation Rates of GNAQ or GNA11 in Cases of Uveal Melanoma in Japan.GNAQ或GNA11突变率在日本葡萄膜黑色素瘤病例中的作用。
Appl Immunohistochem Mol Morphol. 2018 Oct;26(9):658-663. doi: 10.1097/PAI.0000000000000505.
7
Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner.联合使用小分子 MEK 和 PI3K 抑制剂可增强依赖突变 GNAQ 和 GNA11 的葡萄膜黑色素瘤细胞死亡。
Clin Cancer Res. 2012 Aug 15;18(16):4345-55. doi: 10.1158/1078-0432.CCR-11-3227. Epub 2012 Jun 25.
8
The phosphoinositide 3-kinase α selective inhibitor BYL719 enhances the effect of the protein kinase C inhibitor AEB071 in GNAQ/GNA11-mutant uveal melanoma cells.磷酸肌醇 3-激酶 α 选择性抑制剂 BYL719 增强蛋白激酶 C 抑制剂 AEB071 在 GNAQ/GNA11 突变性葡萄膜黑素瘤细胞中的作用。
Mol Cancer Ther. 2014 May;13(5):1044-53. doi: 10.1158/1535-7163.MCT-13-0550. Epub 2014 Feb 21.
9
Lack of GNAQ hotspot mutation in papillary thyroid carcinomas.甲状腺乳头状癌中缺乏GNAQ热点突变。
Thyroid. 2009 Aug;19(8):921-2. doi: 10.1089/thy.2009.0059.
10
Mutations in EGFR, BRAF and RAS are rare in triple-negative and basal-like breast cancers from Caucasian women.EGFR、BRAF 和 RAS 基因突变在高加索裔白人女性的三阴性和基底样乳腺癌中罕见。
Breast Cancer Res Treat. 2014 Jan;143(2):385-92. doi: 10.1007/s10549-013-2798-1. Epub 2013 Dec 7.
引用本文的文献
1
LncRNA GAS8-AS1 dinucleotide genetic variant is associated with early-stage disease, lymph node, and distant metastasis in differentiated thyroid cancer.长链非编码 RNA GAS8-AS1 二核苷酸遗传变异与分化型甲状腺癌的早期疾病、淋巴结和远处转移有关。
Endocrine. 2024 Sep;85(3):1278-1288. doi: 10.1007/s12020-024-03802-7. Epub 2024 Apr 5.
2
MassArray Genotyping as a Selection Tool for Extending the Shelf-Life of Fresh Gilthead Sea Bream and European Seabass.MassArray基因分型作为延长新鲜金头鲷和欧洲鲈鱼货架期的选择工具。
Animals (Basel). 2024 Jan 8;14(2):205. doi: 10.3390/ani14020205.
3
Molecular Diagnostics and [F]FDG-PET/CT in Indeterminate Thyroid Nodules: Complementing Techniques or Waste of Valuable Resources?分子诊断与[F]氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描在甲状腺结节性质不明中的应用：互补技术还是浪费宝贵资源？
Thyroid. 2024 Jan;34(1):41-53. doi: 10.1089/thy.2023.0337. Epub 2023 Dec 28.
4
Artemisinin suppresses aerobic glycolysis in thyroid cancer cells by downregulating HIF-1a, which is increased by the XIST/miR-93/HIF-1a pathway.青蒿素通过下调 HIF-1α抑制甲状腺癌细胞的有氧糖酵解，而 XIST/miR-93/HIF-1α 通路会导致 HIF-1α 增加。
PLoS One. 2023 Apr 10;18(4):e0284242. doi: 10.1371/journal.pone.0284242. eCollection 2023.
5
Bioinformatics and In silico approaches to identify novel biomarkers and key pathways for cancers that are linked to the progression of female infertility: A comprehensive approach for drug discovery.生物信息学和计算方法鉴定与女性不孕进展相关的癌症新型生物标志物和关键通路：药物发现的综合方法。
PLoS One. 2023 Jan 6;18(1):e0265746. doi: 10.1371/journal.pone.0265746. eCollection 2023.
6
Expression Profile and Diagnostic Significance of MicroRNAs in Papillary Thyroid Cancer.微小RNA在甲状腺乳头状癌中的表达谱及诊断意义
Cancers (Basel). 2022 May 28;14(11):2679. doi: 10.3390/cancers14112679.
7
Epigenetic Silencing of SOX15 Is Controlled by miRNAs rather than Methylation in Papillary Thyroid Cancer.甲状腺乳头癌中 SOX15 的表观遗传沉默受 miRNA 而非甲基化调控。
Dis Markers. 2021 Sep 24;2021:1588220. doi: 10.1155/2021/1588220. eCollection 2021.
8
Analysis of and somatic mutations in differentiated thyroid cancers.分化型甲状腺癌中的 和 体细胞突变分析。 （你提供的原文中“Analysis of and somatic mutations”这里两个“and”之间内容缺失，以上是按现有内容翻译）
Mol Clin Oncol. 2021 Oct;15(4):210. doi: 10.3892/mco.2021.2373. Epub 2021 Aug 10.
9
Molecular Alterations in Thyroid Cancer: From Bench to Clinical Practice.甲状腺癌的分子改变：从基础到临床实践。
Genes (Basel). 2019 Sep 13;10(9):709. doi: 10.3390/genes10090709.
10
The Role of MMP8 in Cancer: A Systematic Review.基质金属蛋白酶 8 在癌症中的作用：系统评价。
Int J Mol Sci. 2019 Sep 11;20(18):4506. doi: 10.3390/ijms20184506.
本文引用的文献
1
GNAq mutations are not identified in papillary thyroid carcinomas and hyperfunctioning thyroid nodules.GNAq 突变未在甲状腺乳头状癌和功能性甲状腺结节中被检出。
Endocr Pathol. 2010 Dec;21(4):250-2. doi: 10.1007/s12022-010-9129-4.
2
Mutational and immunohistochemical study of the PI3K/Akt pathway in papillary thyroid carcinoma in Greece.希腊的甲状腺乳头癌中 PI3K/Akt 通路的突变和免疫组化研究。
Endocr Pathol. 2010 Jun;21(2):90-100. doi: 10.1007/s12022-010-9112-0.
3
Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation.p85α 中的体细胞突变通过 IA 类 PI3K 激活促进肿瘤发生。
Cancer Cell. 2009 Dec 8;16(6):463-74. doi: 10.1016/j.ccr.2009.10.016.
4
Somatic mutations are present in all members of the AKT family in endometrial carcinoma.体细胞突变存在于子宫内膜癌中AKT家族的所有成员中。
Br J Cancer. 2009 Oct 6;101(7):1218-9; author reply 1220-1. doi: 10.1038/sj.bjc.6605301. Epub 2009 Sep 8.
5
Mutational profile of GNAQQ209 in human tumors.人类肿瘤中 GNAQQ209 的突变特征。
PLoS One. 2009 Aug 31;4(8):e6833. doi: 10.1371/journal.pone.0006833.
6
Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1.晚期原发性和转移性放射性碘难治性甲状腺癌的突变谱揭示了BRAF、PIK3CA和AKT1的不同致病作用。
Cancer Res. 2009 Jun 1;69(11):4885-93. doi: 10.1158/0008-5472.CAN-09-0727.
7
Lack of GNAQ hotspot mutation in papillary thyroid carcinomas.甲状腺乳头状癌中缺乏GNAQ热点突变。
Thyroid. 2009 Aug;19(8):921-2. doi: 10.1089/thy.2009.0059.
8
MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas.MEK1突变而非ERK2突变存在于黑色素瘤和结肠癌中，但在甲状腺癌中均未出现。
Cell Cycle. 2009 Jul 1;8(13):2122-4. doi: 10.4161/cc.8.13.8710. Epub 2009 Jul 9.
9
Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma.对基质金属蛋白酶家族的分析表明，MMP8在黑色素瘤中常常发生突变。
Nat Genet. 2009 May;41(5):518-20. doi: 10.1038/ng.340. Epub 2009 Mar 29.
10
Epidermal growth factor receptor gene mutations in papillary thyroid carcinoma.甲状腺乳头状癌中的表皮生长因子受体基因突变
Int J Cancer. 2009 Jun 1;124(11):2744-9. doi: 10.1002/ijc.24250.
Zotero 插件