Abstract：
In patients with colorectal cancer, peritoneal metastases are the second most frequent metastatic lesion after liver metastases. Peritoneal metastases have a very poor prognosis, with a median survival time of 5-7 months. Currently, there is a lack of research on the genetic differences between primary colorectal cancer and peritoneal metastases. Therefore, we aimed to identify their genetic characteristics through a cancer panel test using next-generation sequencing.
We aim to investigate the specificity of genetic variants in primary colorectal cancer and peritoneal metastases.
We recruited patients with stage I, II, and III primary colorectal cancer and peritoneal metastases for genetic analysis using NGS. Samples were collected from patients who underwent surgery at Dankook University Hospital and consented to genetic testing. NGS was performed using a cancer panel.
Among 36 patients with primary cancer, TP53 gene mutation was identified the most in 25 patients (69%), followed by APC gene mutation in 19 patients (53%), and KRAS gene mutation in 17 patients (47%). In the peritoneal metastasis patient group, unlike the primary cancer patient group, KRAS gene mutations were the most common 6 patients (55%), followed by TP53 gene mutations in 4 patients (36%) and PIK3CA gene mutations in 2 patients (18%).
The small number of surgical cases of peritoneal metastases was a limitation of our sample size. Nevertheless, we identified differences in the alterations of specific genes between primary and peritoneal metastases. Acquiring additional cases and collecting more data will provide deeper insights into these cancers.
We aim to investigate the specificity of genetic variants in primary colorectal cancer and peritoneal metastases.
We recruited patients with stage I, II, and III primary colorectal cancer and peritoneal metastases for genetic analysis using NGS. Samples were collected from patients who underwent surgery at Dankook University Hospital and consented to genetic testing. NGS was performed using a cancer panel.
Among 36 patients with primary cancer, TP53 gene mutation was identified the most in 25 patients (69%), followed by APC gene mutation in 19 patients (53%), and KRAS gene mutation in 17 patients (47%). In the peritoneal metastasis patient group, unlike the primary cancer patient group, KRAS gene mutations were the most common 6 patients (55%), followed by TP53 gene mutations in 4 patients (36%) and PIK3CA gene mutations in 2 patients (18%).
The small number of surgical cases of peritoneal metastases was a limitation of our sample size. Nevertheless, we identified differences in the alterations of specific genes between primary and peritoneal metastases. Acquiring additional cases and collecting more data will provide deeper insights into these cancers.
摘要：
背景：在结直肠癌患者中，腹膜转移是仅次于肝转移的第二常见转移灶。腹膜转移有非常差的预后,中位生存时间为5-7个月。目前,关于原发性结直肠癌和腹膜转移之间的遗传差异的研究缺乏。因此,我们的目标是通过使用下一代测序的癌症小组检测来确定它们的遗传特征.
目的：我们旨在研究原发性结直肠癌和腹膜转移中遗传变异的特异性。
方法：我们招募了I期患者，II,和III原发性结直肠癌和腹膜转移，用于使用NGS进行遗传分析。样本是从Dankook大学医院接受手术并同意基因检测的患者中收集的。使用癌症小组进行NGS。
结果：在36例原发癌患者中，TP53基因突变在25例患者中最多(69%)，其次是19例患者(53%)的APC基因突变，17例患者中KRAS基因突变（47%）。在腹膜转移患者组中，与原发性癌症患者组不同，KRAS基因突变是最常见的6例患者（55%），其次是4例患者(36%)的TP53基因突变和2例患者(18%)的PIK3CA基因突变.
结论：腹膜转移的手术病例数较少是我们样本量的限制。然而，我们确定了原发性和腹膜转移之间特定基因改变的差异.获取更多病例和收集更多数据将为这些癌症提供更深入的见解。
目的：我们旨在研究原发性结直肠癌和腹膜转移中遗传变异的特异性。
方法：我们招募了I期患者，II,和III原发性结直肠癌和腹膜转移，用于使用NGS进行遗传分析。样本是从Dankook大学医院接受手术并同意基因检测的患者中收集的。使用癌症小组进行NGS。
结果：在36例原发癌患者中，TP53基因突变在25例患者中最多(69%)，其次是19例患者(53%)的APC基因突变，17例患者中KRAS基因突变（47%）。在腹膜转移患者组中，与原发性癌症患者组不同，KRAS基因突变是最常见的6例患者（55%），其次是4例患者(36%)的TP53基因突变和2例患者(18%)的PIK3CA基因突变.
结论：腹膜转移的手术病例数较少是我们样本量的限制。然而，我们确定了原发性和腹膜转移之间特定基因改变的差异.获取更多病例和收集更多数据将为这些癌症提供更深入的见解。
