| 李娟,白瑞,潘月龙.I期结直肠癌转移基因突变特征及临床特征分析[J].浙江中西医结合杂志,2021,31(7): |
| I期结直肠癌转移基因突变特征及临床特征分析 |
| Analysis of gene mutation and clinical features in stage I colorectal cancer |
| 投稿时间：2020-12-13 修订日期：2021-05-27 |
| DOI： |
| 中文关键词: 结直肠癌 基因突变 转移 |
| 英文关键词:colorectal cancer gene mutation metastasis |
| 基金项目:：浙江省基础公益研究计划 LGF18H160040 NKTR通过调控JNK/c-Jun信号通路影响结直肠癌的生长、转移 |
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| 中文摘要: |
| 目的 借助现有的数据库挖掘，借鉴和浓缩数据采集的要点，
进一步明确I期结直肠癌的突变特征，以期指导临床治疗及判断预后。方法 对纪念斯隆-凯特琳癌症中心（MSKCC）数据通过R语言的maftools工具，进一步分析初始I期患者有转移和无转移组突变特征及临床特征。 结果 针对MSKCC突变数据，在I期患者中APC、TP53、KRAS基因突变比例相对于整体数据而言偏低。APC基因突变约占比65%（整体76%），TP53基因突变约占比68%（整体73%），KRAS约占比28%（整体44%），BRAF突变在结直肠癌整体数据中占比12%。I期发生转移的患者APC和TP53突变的比例均高于未发生转移的患者。I期发生转移的患者APC突变占比70%，未发生转移者突变占比59%；I期发生转移的患者TP53突变占比78%,未发生转移者突变占比53%，I期发生转移者TP53突变占比高于APC突变。I期结肠癌患者女性较男性更容易发生转移，I期发生转移者且均为MSS型。结论 本研究借MSKCC数据进行挖掘，发掘了I期结直肠癌转移的一些基因突变特征，I期病人患者中发生转移的APC和TP53突变的比例均高于未发生转移的患者，进一步指导临床治疗及判断预后，并为开展早期肿瘤转移的临床及基础研究，提供了理论依据。 |
| 英文摘要: |
| Objective With the help of existing database mining, learn from and concentrate the key points of data collection, further clarify the mutation characteristics of stage I colorectal cancer, in order to guide clinical treatment and judge prognosis. Methods The data of Memorial Sloan-Kettering Cancer Center (MSKCC) were used to further analyze the mutation characteristics and clinical characteristics of the initial stage I patients with metastasis and non-metastasis groups through the maftools tool of the R language. Results For MSKCC mutation data, the proportion of APC, TP53, and KRAS gene mutations in stage I patients is relatively low compared to the overall data. In stage I colorectal cancer, APC gene mutations accounted for about 65% (total 76%), TP53 gene mutations accounted for about 68% (total 73%), KRAS accounted for about 28% (total 44%). BRAF mutations accounted for 12% in overall colorectal cancer data. The proportion of APC and TP53 mutations in patients with stage I metastasis is higher than those of patients without metastasis. APC mutations in patients with stage I metastasis accounted for 70%, and those without metastasis accounted for 59%; patients with stage I metastasis accounted for 78% of TP53 mutations, and those without metastasis accounted for 53%. The proportion of TP53 mutation was higher than that of APC mutation. Women with stage I colorectal cancer are more likely to metastasize than men. Those with stage I metastasis are all of MSS type. Conclusion This study used MSKCC data to excavate some of the genetic mutation characteristics of stage I colorectal cancer with metastasis. The proportion of APC and TP53 mutations in stage I patients with metastasis is higher than that in patients without metastasis, which will further guide clinical treatment and judging the prognosis and providing a theoretical basis for the development of clinical and basic research on early tumor metastasis. |
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