摩洛哥患者系列中的结直肠癌的突变特征。
, and Mutational Profile of Colorectal Cancer in a Series of Moroccan Patients.
机构信息
Laboratory of Biology of Human Pathologies, Genomic Center of Human Pathologies, Department of Biology, Faculty of Sciences, Mohammed V University in Rabat, Rabat, Morocco.
Laboratory of Research and Biosafety P3, Mohammed V Military Teaching Hospital of Rabat, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.
出版信息
Cancer Control. 2024 Jan-Dec;31:10732748241262179. doi: 10.1177/10732748241262179.
OBJECTIVES
The present study aimed to evaluate the frequencies of , and mutations and their possible associations with clinicopathological features in 249 Moroccan patients with colorectal cancer (CRC).
METHODS
A retrospective investigation of a cohort of formalin-fixed paraffin-embedded tissues of 249 patients with CRC was screened for // mutations using Idylla™ technology and pyrosequencing.
RESULTS
, and mutations were revealed in 46.6% (116/249), 5.6% (14/249), and 2.4% (6/249) of patients. exon 2 mutations were identified in 87.9% of patients (102/116). G12D and G12 C were the most frequent, at 32.8% and 12.93%, respectively. Among the patients with exon 2 wild-type (wt), 27.6% (32/116) harbored additional mutations. Concurrent mutations were identified in 9.5% (11/116); including six in codon 146 (A146P/T/V), three in codon 61 (Q61H/L/R), one in codon 12 (G12 A and Q61H), and one in codon 13 (G13D and Q61 L). Among the exon 2 wt patients, 64.3% (9/14) harbored additional mutations. Concurrent mutations were identified in 28.6% (4/14) of -mutant patients. Since 3.2% wt were identified with mutations, concomitant and mutations were identified in 2.4% (6/249) of patients. mutations were higher in the >50-year-old age-group ( = .031), and the tumor location was revealed to be significantly associated with mutations ( = .028) predominantly in left colon (27.5%) and colon (42.2%) locations. mutations were most prevalent in the left colon (42.8%) and in well-differentiated tumors (64.2%).
CONCLUSION
Detection of mutations, particularly the G12 C subtype, may be significant for patients with CRC and has possible therapeutic implications. However, rare concomitant mutations in CRC patients suggest that each individual may present distinct therapeutic responses. testing alongside the identification of other affected genes in the same patient will make the treatments even more personalized by contributing more accurately to the clinical decision process. Overall, early diagnosis using novel molecular techniques may improve the management of CRC by providing the most efficient therapies for Moroccan patients.
目的
本研究旨在评估 249 例摩洛哥结直肠癌（CRC）患者中 、 和 突变的频率及其与临床病理特征的可能相关性。
方法
采用 Idylla™ 技术和焦磷酸测序对 249 例 CRC 患者的福尔马林固定石蜡包埋组织进行回顾性调查，以筛查 // 突变。
结果
46.6%（116/249）、5.6%（14/249）和 2.4%（6/249）的患者中存在 、 和 突变。87.9%（102/116）的患者存在 外显子 2 突变。G12D 和 G12C 最为常见，分别占 32.8%和 12.93%。在外显子 2 野生型（wt）的患者中，27.6%（32/116）存在其他 突变。共检测到 9.5%（11/116）的 突变；其中 6 例发生在密码子 146（A146P/T/V），3 例发生在密码子 61（Q61H/L/R），1 例发生在密码子 12（G12A 和 Q61H），1 例发生在密码子 13（G13D 和 Q61L）。在外显子 2wt 患者中，64.3%（9/14）存在其他 突变。在 突变患者中，共检测到 28.6%（4/14）的 突变。由于 3.2%wt 患者存在 突变，因此在 2.4%（6/249）的患者中同时存在 和 突变。50 岁以上年龄组 突变率较高（=.031），肿瘤位置与 突变显著相关（=.028），主要发生在左结肠（27.5%）和结肠（42.2%）部位。 突变在左结肠（42.8%）和分化良好的肿瘤（64.2%）中最为常见。
结论
结直肠癌患者中 突变的检测，尤其是 G12C 亚型，可能具有重要意义，并可能具有治疗意义。然而，CRC 患者中罕见的 同时突变提示每个患者可能存在不同的治疗反应。在同一患者中同时检测其他受影响的基因，将使治疗更加个体化，从而更准确地为临床决策过程做出贡献。总之，通过使用新型分子技术进行早期诊断，可能会通过为摩洛哥患者提供最有效的治疗方法来改善 CRC 的管理。
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