Horvat Matej, Potočnik Uroš, Repnik Katja, Kavalar Rajko, Štabuc Borut
University Medical Centre Maribor, 2000 Maribor, Slovenia.
Faculty of Medicine, Centre for Human Molecular Genetics and Pharmacogenomics, University of Maribor, 2000 Maribor, Slovenia; Faculty for Chemistry and Chemical Engineering, Laboratory for Biochemistry, Molecular Biology and Genomics, University of Maribor, 2000 Maribor, Slovenia.
Gastroenterol Res Pract. 2016;2016:2139489. doi: 10.1155/2016/2139489. Epub 2016 Jan 14.
Colorectal cancer (CRC) is a highly heterogeneous disease regarding the stage at time of diagnosis and there is special attention regarding adjuvant chemotherapy in unselected patients with stage I and stage II. The clinicohistologically based TNM staging system with emphasis on histological evaluation of primary tumor and resected regional lymph nodes remains the standard of staging, but it has restricted sensitivity resulting in false downward stage migration. Molecular characteristics might predispose tumors to a worse prognosis and identification of those enables identifying patients with high risk of disease recurrence. Suitable predictive markers also enable choosing the most appropriate therapy. The current challenge facing adjuvant chemotherapy in stages I and II CRC is choosing patients with the highest risk of disease recurrence who are going to derive most benefit without facing unnecessary adverse effects. Single nucleotide polymorphisms (SNPs) are one of the potential molecular markers that might help us identify patients with unfavorable prognostic factors regarding disease initiation and recurrence and could determine selection of an appropriate chemotherapy regimen in the adjuvant and metastatic setting. In this paper, we discuss SNPs of genes involved in the multistep processes of cancerogenesis, metastasis, and the metabolism of chemotherapy that might prove clinically significant.
结直肠癌(CRC)在诊断时的分期方面是一种高度异质性疾病,对于未经选择的I期和II期患者的辅助化疗受到特别关注。基于临床组织学的TNM分期系统强调对原发性肿瘤和切除的区域淋巴结进行组织学评估,仍然是分期的标准,但它的敏感性有限,会导致分期错误地向下迁移。分子特征可能使肿瘤预后更差,识别这些特征能够确定疾病复发风险高的患者。合适的预测标志物还能帮助选择最合适的治疗方法。I期和II期CRC辅助化疗目前面临的挑战是选择疾病复发风险最高且能在不面临不必要不良反应的情况下获得最大益处的患者。单核苷酸多态性(SNP)是潜在的分子标志物之一,可能有助于我们识别在疾病发生和复发方面具有不良预后因素的患者,并能在辅助和转移情况下确定合适化疗方案的选择。在本文中,我们讨论了参与癌症发生、转移以及化疗代谢多步骤过程的基因的SNP,这些SNP可能具有临床意义。