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韩国人群甲状腺结节性增生和滤泡性肿瘤的突变分析。

Analysis of mutation in thyroid nodular hyperplasia and follicular neoplasm in a Korean population.

作者信息

Jeong Sun Hye, Hong Hyun Sook, Lee Eun Hye, Kwak Jeong Ja, Lee Ji Ye

机构信息

Department of Radiology Soonchunhyang University Bucheon Hospital Bucheon Korea.

Department of Pathology Soonchunhyang University Bucheon Hospital Bucheon Korea.

出版信息

Endocrinol Diabetes Metab. 2018 Sep 3;1(4):e00040. doi: 10.1002/edm2.40. eCollection 2018 Oct.

Abstract

BACKGROUND

To investigate the difference in frequency of mutations between nodular hyperplasia (NH), follicular thyroid adenomas (FTAs) and follicular thyroid carcinomas (FTCs) in a Korean population.

METHODS

mutations in 50 NH, 57 FTAs and 39 FTCs between January 2002 and May 2015 were analysed by pyrosequencing.

RESULTS

Nine nodules of 50 NHs (18%), 18 nodules of 39 FTCs (46.2%) and 19 nodules of 57 FTAs (33.3%) harboured mutations. Three FTCs and three FTAs showed two point mutations simultaneously. codon 61 (n=6 of 9, 66.7%) and codon 61 (n=3 of 9, 33.3%) were found in NHs. codons 12-13, codon 61, codons 12-13 and codons 12-13 were not found in NHs. codon 61 (n=7 of 21, 33.3%), codons 12-13 (n=6 of 21, 28.6%), codon 61 (n=4 of 21, 19.0%), codon 61 (n=3 of 21, 14.3%) and codons 12-13 (n=1 of 21, 4.7%) were found in FTCs, and codon 61 (n=10 of 22, 45.5%), codons 12-13 (n=5 of 22, 22.7%), codon 61 (n=5 of 22, 22.7%), codon 61 (n=1 of 22, 4.5%) and codons 12-13 (n=1 of 22, 4.5%) were observed in FTAs.

CONCLUSIONS

The frequencies of RAS mutations among our Korean population were 18% in NHs, 46.2% in FTC and 33.3% in FTAs. N-RAS codon 61 was the most frequent mutation in NHs, FTCs and FTAs, and the frequency was not significantly different among the three groups. K-RAS codons 12-13 were the second most commonly involved site in FTCs and FTAs, whereas no mutation was detected at this site in NHs.

摘要

背景

研究韩国人群中结节性增生(NH)、滤泡性甲状腺腺瘤(FTA)和滤泡性甲状腺癌(FTC)之间的突变频率差异。

方法

对2002年1月至2015年5月期间的50例NH、57例FTA和39例FTC进行焦磷酸测序分析突变情况。

结果

50例NH中有9个结节(18%)、39例FTC中有18个结节(46.2%)、57例FTA中有19个结节(33.3%)存在突变。3例FTC和3例FTA同时出现两个点突变。NH中发现密码子61(9例中的6例,66.7%)和密码子61(9例中的3例,33.3%)。NH中未发现密码子12 - 13、密码子61、密码子12 - 13和密码子12 - 13。FTC中发现密码子61(21例中的7例,33.3%)、密码子12 - 13(21例中的6例,28.6%)、密码子61(21例中的4例,19.0%)、密码子61(21例中的3例,14.3%)和密码子12 - 13(21例中的1例,4.7%),FTA中观察到密码子61(22例中的10例,45.5%)、密码子12 - 13(22例中的5例,22.7%)、密码子61(22例中的5例,22.7%)、密码子61(22例中的1例,4.5%)和密码子12 - 13(22例中的1例,4.5%)。

结论

在我们的韩国人群中,NH的RAS突变频率为18%,FTC为46.2%,FTA为33.3%。N - RAS密码子61是NH、FTC和FTA中最常见的突变,且三组之间频率无显著差异。K - RAS密码子12 - 13是FTC和FTA中第二常见的突变位点,而NH中该位点未检测到突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7593/6354824/e45dbd264997/EDM2-1-e00040-g001.jpg

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