Zeng Juanzi, Fan Wenwei, Li Jiaquan, Wu Guowu, Wu Heming
Department of Medical Oncology, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.
Center for Precision Medicine, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.
Int J Gen Med. 2023 Sep 11;16:4109-4120. doi: 10.2147/IJGM.S428580. eCollection 2023.
The occurrence, progression, and prognosis of colorectal cancer (CRC) are regulated by EGFR-mediated signaling pathways. However, the relationship between the core genes (///) status in the signaling pathways and clinicopathological characteristics of CRC patients in Hakka population remains controversial.
Patients were genotyped for (codons 12, 13, 61, 117, and 146), (codons 12, 61, 117, and 146), (codons 600), and (codons 542, 545 and 1047) mutations. Clinical records were collected, and clinicopathological characteristic associations were analyzed together with mutations of studied genes.
Four hundred and eight patients (256 men and 152 women) were included in the analysis. At least one mutation in the four genes was detected in 216 (52.9%) patients, while none was detected in 192 (47.1%) patients. , and mutation status were detected in 190 (46.6%), 11 (2.7%), 10 (2.5%), 34 (8.3%) samples, respectively. exon 2 had the highest proportion (62.5%). Age, tumor site, tumor size, lymphovascular invasion, and perineural invasion were not associated with gene mutations. mutations (adjusted OR 1.675, 95% CI 1.017-2.760, =0.043) and mutations (adjusted OR 5.183, 95% CI 1.239-21.687, =0.024) appeared more frequently in patients with distant metastasis. mutations (adjusted OR 7.224, 95% CI 1.356-38.488, =0.021) and mutations (adjusted OR 3.811, 95% CI 1.268-11.455, =0.017) associated with poorly differentiated tumor.
mutations are associated with distant metastasis and mutations are associated with poor tumor differentiation in CRC. And the results provided a better understanding between clinicopathological characteristics and gene mutations in CRC patients.
结直肠癌(CRC)的发生、发展及预后受表皮生长因子受体(EGFR)介导的信号通路调控。然而,客家人群中该信号通路核心基因(///)状态与CRC患者临床病理特征之间的关系仍存在争议。
对患者进行KRAS(密码子12、13、61、117和146)、NRAS(密码子12、61、117和146)、BRAF(密码子600)和PIK3CA(密码子542、545和1047)突变的基因分型。收集临床记录,并将临床病理特征关联与所研究基因的突变一起进行分析。
408例患者(256例男性和152例女性)纳入分析。216例(52.9%)患者检测到四个基因中至少一个突变,192例(47.1%)患者未检测到突变。KRAS、NRAS、BRAF和PIK3CA突变状态分别在190例(46.6%)、11例(2.7%)、10例(2.5%)、34例(8.3%)样本中检测到。KRAS外显子2比例最高(62.5%)。年龄、肿瘤部位、肿瘤大小、淋巴管浸润和神经周围浸润与基因突变无关。KRAS突变(调整后比值比1.675,95%置信区间1.017 - 2.760,P = 0.043)和NRAS突变(调整后比值比5.183,95%置信区间1.239 - 21.687,P = 0.024)在远处转移患者中更频繁出现。BRAF突变(调整后比值比7.224,95%置信区间1.356 - 38.488,P = 0.021)和PIK3CA突变(调整后比值比3.811,95%置信区间1.268 - 11.455,P = 0.017)与肿瘤低分化相关。
CRC中KRAS突变与远处转移相关,BRAF突变与肿瘤低分化相关。研究结果为更好地理解CRC患者临床病理特征与基因突变之间的关系提供了依据。