| Libo Feng,Dong Xia,Yu Liu,Xiaolong Chen. SMARCC1 number variation is related to metastatic colon cancer: an investigation based on TCGA data. Oncol Transl Med, 2021, 7: 216-220. |
| SMARCC1的拷贝数与结肠癌转移相关 |
| SMARCC1 number variation is related to metastatic colon cancer: an investigation based on TCGA data |
| Received:September 19, 2021 Revised:October 22, 2021 |
| DOI：10.1007/s10330-021-0522-2 |
| 中文关键词: 结肠癌；拷贝数；基因标志 |
| 英文关键词: colon cancer (CC); copy number variation (CNV); genetic marker |
| 基金项目:西南医科大学-三附院联合项目 |
| Author Name | Affiliation | E-mail | | Libo Feng | The Affiliated Hospital of Southwest Medical University | f125058197@163.com | | Dong Xia | The Affiliated Hospital of Southwest Medical University | | | Yu Liu | Department of Electrocardiogram, Affiliated Hospital of Southwest Medical University, Luzhou 646000, China | | | Xiaolong Chen* | The Affiliated Hospital of Southwest Medical University | 1870747218@qq.com |
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| 中文摘要: |
| 结肠癌（colon cancer, CC）患者的远处转移没有明确的遗传指标。发现与转移性 CC 有关的基因变化可能有助于全身和局部治疗方法的发展。利用肿瘤基因组图谱数据库（TCGA） ，我们研究了SWI/SNF相关基质相关肌动蛋白依赖的染色质亚家族C成员调控因子1（SMARCC1）的 拷贝数变异（copy number variation，CNV）与 CC 患者远处转移的关系。方法: 从TCGA数据库下载所有相关 CC 患者的基因测序资料和临床特征。共有506例伴有 CNV 的 CC 患者及临床结局资料。利用 TCGA 中CC 数据集检测 SMARCC1的 CNV 与远处转移性疾病的相关性(M1和 M0)。根据年龄、性别、 T 分期、N分期、辅助化疗、微卫星不稳定性（MSI）和手术切缘状况，进行了单因素和多因素的 Logit回归分析。结果: SMARCC1 CNV 与远处转移性疾病相关(p = 0.012和0.008，分别为单因素和多变量分析) ，阳性淋巴结和边缘状态与远处转移性疾病相关(均 p < 0.01) ，MSI、T分期、N 分期、辅助治疗、性别、种族、 MSI 与转移性疾病无关(均 p > 0.05)。结论: SMARCC1 CNV 与 CC 患者远处转移有关。对于 CC 患者，在等待进一步确认的情况下，这些基因图谱可以用于支持针对 CC 的局部治疗的最佳全身治疗方案，例如放射治疗。 |
| 英文摘要: |
| Objective There are no well-defined genetic indicators for distant metastatic illness in patients with colon
cancer (CC). The discovery of genetic changes linked to metastatic CC might aid in the development of
systemic and local therapeutic approaches. Using The Cancer Genome Atlas (TCGA), we examined the
relationship between copy number variation (CNV) of SWI/SNF-related matrix-associated actin-dependent
regulator of chromatin subfamily C member 1 (SMARCC1) and distant metastatic illness in patients with CC.
Methods Genetic sequencing data of all relevant CC patients and clinical features were collected from
TCGA using R. There were 506 CC patients with CNV and clinical outcome data. The CNV of SMARCC1
was examined for its correlation with distant metastatic disease using the TCGA CC dataset (M1 vs. M0).
After adjusting for age, sex, T stage, N stage, adjuvant chemotherapy, microsatellite instability (MSI), and
surgical margin status, univariate and multivariate logistic regression analyses were performed.
Results SMARCC1 CNV was linked to distant metastatic disease (P = 0.012 and 0.008 in univariate
and multivariate analysis, respectively); positive lymph nodes and margin status were also associated with
distal metastases (all P < 0.01). MSI, T stage, N stage, adjuvant treatment, sex, race, and MSI were not
associated with metastases (all P > 0.05).
Conclusion SMARCC1 CNV is associated with distant metastatic disease in patients with CC. In
individuals with CC, such genetic profiles might be utilized therapeutically to support optimal systemic
treatment options against local treatments for CC, such as radiation therapy, pending additional confirmation. |
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