[基于新一代测序的结直肠癌 PIK3CA 基因突变及其相关预后检测]。

X Peng, X Zhang, H X Lu, L L Shen, N Gao, L K Zan
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引用次数: 0

摘要

研究目的研究结直肠癌中的 PIK3CA 基因突变,分析其临床病理特征,并评估其在临床治疗和预后中的作用。研究方法收集2018年至2021年山西省肿瘤医院结直肠癌石蜡包埋组织样本共128份。从样本中提取DNA,采用新一代测序技术(NGS)检测PIK3CA突变。分析了PIK3CA突变、其临床病理特征和预后之间的关系。结果在128份结直肠癌样本中,男性75人,女性53人;年龄范围为32-86岁,中位年龄为61.5岁,27人(21.09%)有PIK3CA突变。PIK3CA突变的结直肠癌更容易发生在男性患者中(P=0.007),这与肿瘤部位(P=0.032)、肿瘤大小(P=0.029)和TP53野生型(P=0.001)有关。PIK3CA的常见位点突变多发生在肿瘤突变负荷≥10 Muts/Mb的肿瘤中(P=0.031)。PIK3CA突变对患者的生存预后无明显影响,但这些患者的抗血管生成治疗效果较差。结论PIK3CA突变是结直肠癌中常见的突变,在结直肠癌的发生和发展中起着重要作用。PIK3CA突变可能导致结直肠癌患者对抗血管生成药物产生耐药性,但其对患者生存和预后的影响还需进一步研究。
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[Detection of PIK3CA gene mutation and its related prognosis in colorectal cancer based on next-generation sequencing].

Objectives: To investigate the mutation of PIK3CA in colorectal cancer and to analyze their clinicopathological features, and evaluate their role in clinical treatment and prognostication. Methods: A total of 128 paraffin-embbeded tissue samples of colorectal cancer from Shanxi Cancer Hospital from 2018 to 2021 were collected. DNA was extracted from the samples, and next-generation sequencing (NGS) was used to detect PIK3CA mutation. The relationship between PIK3CA mutation, their clinicopathological features, and prognosis were analyzed. Results: Among the 128 colorectal cancer samples, there were 75 males and 53 females; with aged range 32-86 years, median 61.5 years, 27 (21.09%) had PIK3CA mutations. Colorectal cancer with PIK3CA mutation was more likely to occur in male patients (P=0.007), which was related to tumor site (P=0.032), tumor size (P=0.029) and TP53 wild-type (P=0.001). The common site mutations of PIK3CA mostly occurred in tumors with tumor mutation burden≥10 Muts/Mb (P=0.031).PIK3CA mutation had no significant effect on the survival prognosis of patients, but the efficacy of anti-angiogenic therapy was poor in these patients. Conclusions: PIK3CA mutation is a common mutation in colorectal cancer and plays an important role in the occurrence and development of colorectal cancer. PIK3CA mutation may lead to resistance to anti-angiogenic drugs in colorectal cancer, but its impact on survival and prognosis to patients needs further study.

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中华病理学杂志
中华病理学杂志 Medicine-Medicine (all)
CiteScore
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10377
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