Stec Rafał, Semeniuk-Wojtaś Aleksandra, Charkiewicz Radosław, Bodnar Lubomir, Korniluk Jan, Smoter Marta, Chyczewski Lech, Nikliński Jacek, Szczylik Cezary
Department of Oncology, Military Institute of Medicine, Warsaw 04-141, Poland.
Department of Clinical Molecular Biology, Medical University of Bialystok, Bialystok 15-089, Poland.
Oncol Lett. 2015 Sep;10(3):1423-1429. doi: 10.3892/ol.2015.3398. Epub 2015 Jun 19.
Colorectal cancer (CRC) is one of the most common cancers worldwide, with ~700,000 mortalities occurring due to CRC in 2012. The treatment options are effective in a small percentage of patients, and it is important to identify specific biomarkers in order to determine patients for whom the available therapies will be beneficial. It has been hypothesised that the gene mutation may affect the response to therapy of patients with metastatic CRC. In the present study, primary tumour specimens were collected from 156 patients with CRC who were treated in the Military Institute of Medicine in Warsaw (Warsaw, Poland). Codons 12 and 13 of exon 1 of , exons 11 and 15 of and exons 9 and 20 of were analysed for mutation using direct sequencing. The prognostic value of each mutation and the clinical and pathological variables of these tumours were estimated. The results revealed that mutations were present in 15 patients (9.6%), of whom seven (46.7%) possessed mutations in codon 9 and eight (53.3%) possessed mutations in codon 20. Mutation in the gene was detected in six patients with gene mutations, which accounted for 40% of -mutated tumours, and in one patient with mutations, which accounted for 6.6% of -mutated tumours. No significant differences were identified between the overall survival (OS) rates of patients with mutations (median OS, 56.7 months) and those with wild-type genes (median OS, 47.6 months) (P=0.1270). Univariate analysis identified that the following prognostic factors affected the OS rate in the current patient cohort: Gender, female patients survived for 57.5 months compared with 39.3 months for male patients (P=0.0111); and lymph node involvement grade, as survival of patients without lymph node metastases was 61.4 months compared with 45.4 months in patients presenting with metastases (P=0.0122). The findings of the present analysis indicate that mutation status is not a prognostic factor in CRC patients. In addition, no statistically significant association exists between tumours with mutations and clinical or pathological factors.
结直肠癌（CRC）是全球最常见的癌症之一，2012年约有70万人因结直肠癌死亡。治疗方案仅对一小部分患者有效，因此识别特定生物标志物以确定哪些患者能从现有治疗中获益非常重要。据推测， 基因突变可能会影响转移性结直肠癌患者对治疗的反应。在本研究中，从156名在华沙军事医学研究所（波兰华沙）接受治疗的结直肠癌患者中收集了原发性肿瘤标本。使用直接测序法分析了 外显子1的第12和13密码子、 外显子11和15以及 外显子9和20的突变情况。评估了每种突变的预后价值以及这些肿瘤的临床和病理变量。结果显示，15名患者（9.6%）存在 突变，其中7名（46.7%）在第9密码子处有突变，8名（53.3%）在第20密码子处有突变。在6名有 基因突变的患者中检测到 基因的突变，占 -突变肿瘤的40%；在1名有 突变的患者中检测到 基因的突变，占 -突变肿瘤的6.6%。 突变患者的总生存期（OS）（中位OS，56.7个月）与野生型 基因患者（中位OS，47.6个月）之间未发现显著差异（P = 0.1270）。单因素分析确定，以下预后因素影响当前患者队列的OS率：性别，女性患者生存期为57.5个月，男性患者为39.3个月（P = 0.0111）；以及淋巴结受累分级，无淋巴结转移患者的生存期为61.4个月，有转移患者为45.4个月（P = 0.0122）。本分析结果表明， 突变状态不是结直肠癌患者的预后因素。此外，有 突变的肿瘤与临床或病理因素之间不存在统计学上的显著关联。
