Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer.
Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer.
复制标题
结直肠癌肿瘤相关基因微卫星不稳定性和杂合性缺失的特征及临床评价。
DOI：
10.1186/s12920-021-01051-5
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发表时间：
2021-09-25
影响因子：
2.7
通讯作者：
Chen Z
中科院分区：
文献类型：
--
作者：
Huo X;Feng D;Zhang S;Li Z;Li X;Li C;Guo M;Wang J;Zhang Z;Lu Q;Du X;Bai Z;Chen Z
微卫星不稳定性（MSI）是结直肠癌（CRC）预后更好的生物标志物。然而，这一结论是有争议的。此外，MS可作为基因杂合性缺失（洛）的有用标记，但这一发现尚未得到充分研究。在此，我们的目的是阐明肿瘤相关基因的MSI/洛在CRC中的预测价值。通过STR扫描和克隆/测序检测肿瘤相关基因和Bethesda（B5）panel中MS的MSI/洛。采用Pearson卡方检验、Fisher精确检验和Kaplan-Meier法分析MSI/洛状态与临床特征和预后的关系。结果表明，B5位点的MSI率均高于肿瘤相关基因位点。有趣的是，B5组中2个位点和12个肿瘤相关基因位点的MSI/洛与较差的预后相关，而B5组的MSI/洛不能预测CRC的预后。BAT 25的MSI、BAT 26的MSI/洛和B5的MSI与粘液腺癌的关系较密切。此外，B5组的LOH-H与淋巴转移增加相关。总之，B5某些位点或整个组合的MSI/洛与临床特征相关，并且肿瘤相关基因内的几个位点在结直肠癌的预后中显示出预后价值。在线版本包含补充材料，可通过10.1186/s12920-021-01051-5获得。
Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LOH) of genes, but this finding has not been well studied. Here, we aimed to clarify the predictive value of MSI/LOH within tumor-related genes in CRC. We detected MSI/LOH of MSs in tumor-related genes and the Bethesda (B5) panel by STR scanning and cloning/sequencing. We further analyzed the relationship between MSI/LOH status and clinical features or outcomes by Pearson’s Chi-square test, Fisher’s exact test and the Kaplan–Meier method. The findings indicated that the MSI rates of B5 loci were all higher than those of loci in tumor-related genes. Interestingly, MSI/LOH of 2 loci in the B5 panel and 12 loci in tumor-related genes were associated with poorer outcomes, while MSI/LOH of the B5 panel failed to predict outcomes in CRC. MSI of BAT25, MSI/LOH of BAT26 and MSI of the B5 panel showed closer relationships with mucinous carcinoma. In addition, LOH-H of the B5 panel was associated with increased lymphatic metastasis. In summary, MSI/LOH of certain loci or the whole panel of B5 is related to clinical features, and several loci within tumor-related genes showed prognostic value in the outcomes of CRC. The online version contains supplementary material available at 10.1186/s12920-021-01051-5.
影响因子：
3.8
作者：
Lööf J;Rosell J;Bratthäll C;Doré S;Starkhammar H;Zhang H;Sun XF
通讯作者：
Sun XF
影响因子：
4.6
作者：
Helwa R;Gansmo LB;Romundstad P;Hveem K;Vatten L;Ryan BM;Harris CC;Lønning PE;Knappskog S
通讯作者：
Knappskog S