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双突变型结直肠癌患者的频率和临床病理特征:一项研究。

Frequency and Clinicopathological Characteristics of Patients With Double-Mutant Colorectal Cancer: An Study.

机构信息

Division of Diagnostic Pathology, Kikuna Memorial Hospital, Yokohama, Japan.

Pathology Division, Shizuoka Cancer Center, Shizuoka, Japan.

出版信息

Pathol Oncol Res. 2022 Feb 24;28:1610206. doi: 10.3389/pore.2022.1610206. eCollection 2022.

Abstract

and mutations are currently thought to be mutually exclusive as their co-occurrence is extremely rare. Therefore, clinicopathological and molecular characteristics of colorectal carcinoma with double mutations are unclear. We aimed to investigate the frequency and clinicopathological characteristics of double-mutant colorectal carcinoma and its differences from single-mutant colorectal carcinoma using bioinformatics tools. We estimated the double mutation frequency in the whole exon and coding sequences via bioinformatic analyses of three datasets from cBioPortal. We compared the clinicopathological characteristics, microsatellite instability status, classification, and tumor mutation burden of patients harboring the double mutants with those of patients harboring or single mutations. We integrated three large datasets and found that the frequency of the double mutation in the dataset was 1.2% (29/2347). The double mutation occurred more frequently in males, with a slightly higher occurrence in the right side of the colon. Sex, histological type, histological grade, microsatellite instability, and tumor mutation burden of the patients harboring -mutant, -mutant, and double-mutant colorectal carcinoma varied significantly. The frequency of double-mutant colorectal carcinoma was 60 times higher than that previously reported. Significantly fewer double-mutant colorectal carcinoma cases were classified as class 1 and more were classified as unknown. Our findings indicate that the biological characteristics of double-mutant tumors are different from those of single-mutant tumors.

摘要

并且突变目前被认为是相互排斥的,因为它们的共同发生极其罕见。因此,双突变结直肠癌的临床病理和分子特征尚不清楚。我们旨在使用生物信息学工具研究双突变结直肠癌的频率及其临床病理特征,并与单突变结直肠癌进行比较。我们通过 cBioPortal 中的三个数据集的生物信息学分析来估计整个外显子和编码序列中的双突变频率。我们比较了携带双突变体的患者与携带或单突变体的患者的临床病理特征、微卫星不稳定性状态、分类和肿瘤突变负担。我们整合了三个大型数据集,发现双突变在数据集的频率为 1.2%(29/2347)。双突变在男性中更常见,在结肠右侧的发生率略高。携带 -突变、-突变和双突变结直肠癌患者的性别、组织学类型、组织学分级、微卫星不稳定性和肿瘤突变负担存在显著差异。双突变结直肠癌的频率比以前报道的要高 60 倍。明显较少的双突变结直肠癌病例被归类为 1 类,更多的病例被归类为未知。我们的研究结果表明,双突变肿瘤的生物学特征与单突变肿瘤不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f498/8908457/aa8f78cf333a/pore-28-1610206-g001.jpg

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