【佳学基因检测】人类甲状腺肿瘤中 p53 和Ras突变基因检测的频率比较研究

病理基因检测合理性

学习基因检测结果分析中的基因解码方法，惊奇的听到《Eur J Endocrinol》在. 1996 Feb;134(2):177-83.发表了一篇题目为《人类甲状腺肿瘤中 p53 和Ras突变基因检测的频率比较研究》肿瘤靶向药物治疗基因检测临床研究文章。该研究由D Salvatore , A Celetti, N Fabien, C Paulin, M L Martelli, C Battaglia, D Califano, C Monaco, G Viglietto, M Santoro, A Fusco等完成。促进了甲状腺结节是否是恶性这一胸科肿瘤医院的常风问题的基因检测方案，进一步强调了甲状腺肿瘤早期进行正规基因检测的重要性。

癌症复发临床研究内容关键词：

甲状腺肿瘤,P53,RAS,突变基因检测,SSCP,PCR,抑制基因

肿瘤靶向治疗基因检测临床应用结果

抑制基因检测大数据研究的目的：p53 是一种众所周知的核磷蛋白，由已知在各种人类肿瘤中发生突变的抑制基因编码。 p53 基因突变与肿瘤进展之间的关系似乎是几种肿瘤的共同特征。肿瘤抑制基因P53的突变研究设计：为了研究 p53 突变在人类甲状腺肿瘤中的作用，来自 56 个肿瘤组织的 DNA 样本，范围从良性腺瘤到检查未分化癌中通过基因检测检查是否存在 p53 基因突变。肿瘤抑制基因临床应用效果的研究方法：使用聚合酶链反应 (PCR) 扩增 p53 基因外显子 5-9 进行基因检测，然后进行单链构象多态性 (SSCP) 基因检测和序列分析，进行了分析。P53基因检测结果： 1 例间变性癌和 1 例乳头状癌分别在外显子 5 和 8 中显示 p53 基因突变。从乳头状癌建立的细胞系显示出与原始肿瘤相同的突变。两个 p53 突变都是杂合的。分析了 p53 阳性样品中经常在人类甲状腺癌中检测到的其他遗传改变（RET、TRK 和 ras 癌基因的突变）：两个 p53 突变样品都证明在 c-Ki-ras 的密码子 13 水平上发生了突变结论：胸科医院基因检测的数据证实在分化良好的甲状腺肿瘤中 p53 基因改变很少见，在甲状腺肿瘤的恶性进展中，它们是建立人类甲状腺癌细胞系培养的重要要求，并且它们可能与其他基因改变有关，即ras 突变。

肿瘤发生与复发转移国际数据库描述：

Objective: p53 is a well-known nuclear phosphoprotein encoded by a suppressor gene know to be mutated in various kinds of human tumours. A relationship between p53 gene mutation and tumour progression seems to be a common feature of several neoplasias.Design: In order to investigate the role of p53 mutations in human thyroid tumours, DNA samples derived from fifty-six neoplastic tissues, ranging from benign adenomas to undifferentiated carcinomas, were examined for the presence of p53 gene mutations.Methods: The analysis has been conducted using polymerase chain reaction (PCR) amplification of the exons 5-9 of the p53 gene followed by single strand conformation polymorphism (SSCP) and sequence analyses.Results: One anaplastic carcinoma and one papillary carcinoma showed p53 gene mutations in exons 5 and 8, respectively. A cell line established from the papillary carcinoma showed the same mutation present in the original tumour. Both p53 mutations were heterozygous. The p53 positive samples were analysed for other genetic alterations frequently detected in human thyroid carcinomas (mutations of the RET, TRK, and ras oncogenes): both p53-mutated samples proved to be mutated at level of codon 13 of the c-Ki-ras gene.Conclusions: Our data confirm that p53 gene alterations are rare in well-differentiated thyroid tumours, that they are an important requirement for the establishment in culture of human thyroid carcinoma cell lines, and that they can be associated with other genetic alterations, namely ras mutations, in the malignant progression of thyroid tumours.