安徽省皖南地区甲状腺乳头状癌患者BRAF和K-ras基因突变的调查
Investigation of BRAF and K-ras gene mutations in patients with papillary thyroid carcinoma at Wannan region of Anhui province
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摘要: 目的：调查安徽省皖南地区甲状腺乳头状癌（PTC）的主要基因突变。方法：收集PTC石蜡包埋组织33例，进行DNA提取，聚合酶链反应法扩增和基因测序检测鼠类肉瘤滤过性毒菌致癌同源体B1基因（BRAF）中的缬氨酸（V）被谷氨酸（E）替代（V600E）和K-ras基因的12和13密码子基因突变。所有患者术前均采用发光免疫法检测血清总三碘甲状腺原氨酸、游离三碘甲状腺原氨酸、总四碘甲状腺原氨酸、游离四碘甲状腺原氨酸和促甲状腺激素。结果：33例样本中有13例检测出BRAF基因V600E突变，突变率39.4%；而K-ras基因的12和13密码子没有发现突变；BRAF基因V600E突变与患者性别、年龄和肿瘤直径无关；BRAF基因突变患者血清总三碘甲状腺原氨酸、游离三碘甲状腺原氨酸和促甲状腺激素水平均低于基因非突变患者（P<0.05～P<0.01），基因突变患者血清游离四碘甲状腺原氨酸水平明显高于非突变患者（P<0.01），而两者总四碘甲状腺原氨酸水平差异无统计学意义（P>0.05）。结论：BRAF基因V600E突变是皖南地区PTC患者的高发基因突变。
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关键词:
- 甲状腺乳头状癌 /
- 基因突变 /
- 鼠类肉瘤滤过性毒菌致癌同源体B1基因 /
- K-ras基因
Abstract: Objective: To investigate the major mutations in patients with papillary thyroid carcinoma at Wannan region of Anhui.Methods: Thirty-three paraffin-embedded samples were collected.After extraction of DNA,the glutamate replaced valine(V600E) of v-raf murine sarcoma viral oncogene homolog B1(BRAF) gene,and the mutations in 12 and 13 codon of K-ras gene were detected using polymerase chain reaction and gene sequencing.Serum total triiodothyronine,free triiodothyronine,total tetraiodothyronine,free tetraiodothyronine and thyroid stimulating hormone of all the cases were measured by luminescentimmunoassay before operation.Results: V600E mutation of BRAF was detected in 13 of the 33 cases(39.4%);Meanwhile,no mutation in 12 and 13 codon of K-ras gene was detected.There was no significant association between V600E mutations of BRAF and the gender,age or diameter of the tumor.The levels of serum triiodothyronine,free triiodothyronine and thyroid stimulating hormone in patients with V600E mutation of BRAF were significantly lower than those in patients without V600E mutation of BRAF(P<0.05 to P<0.01).The levels of serum free tetraiodothyronine in patients with V600E mutation of BRAF were significantly higher than those in patients without V600E mutation of BRAF(P<0.01);the level of serum total tetraiodothyronine had no significant difference between the two groups(P>0.05).Conclusions: V600E mutation of BRAF gene is the major mutation in papillary thyroid carcinoma patients at Wannan region of Anhui -
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