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评估中低收入国家结直肠癌患者错配修复检测的效用和可行性。

Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country.

机构信息

Biomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.

Cancer Genomics Research Center, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.

出版信息

Sci Rep. 2022 Jun 29;12(1):10998. doi: 10.1038/s41598-022-14644-6.

Abstract

Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs).

摘要

苏丹的结直肠癌(CRC)分子病理学服务存在重大未满足的临床需求。在一项回顾性队列研究中,我们纳入了苏丹三家主要医疗机构的 50 名 CRC 患者,旨在概述苏丹 CRC 分子遗传学服务的引入,并探讨 CRC 的分子特征及其与患者生存和临床病理特征的关系。采用免疫组织化学方法检测错配修复(MMR)和 BRAF(V600E)突变状态。16%的病例表现为错配修复缺陷(dMMR)亚型,多达 14%的患者被诊断为疑似林奇综合征(LS)。苏丹的 dMMR CRC 具有诊断时年龄较小和右侧肿瘤发生率较高的特点。我们报告了苏丹 CRC 患者的高死亡率,与晚期疾病阶段和 MMR 状态相关。常规 MMR 免疫组化(伴有连续的 BRAF 突变分析)是一种可行的 CRC 预后和预测性分子生物标志物,也是中低收入国家(LMICs)LS 的筛查工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf8/9243080/ffa6059e1cde/41598_2022_14644_Fig1_HTML.jpg

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