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下一代测序与基因组图谱绘制:迈向摩洛哥肺癌的精准分子诊断

Next generation sequencing and genomic mapping: towards precision molecular diagnosis of lung cancer in Morocco.

作者信息

Morjani Ouafaa, Mounaji Noura, Ghaouti Meriem, Errihani Hassan, El Fahime Elmostafa, Lakhiari Hamid

机构信息

Laboratory of Virology, Oncology, Biosciences, Environment, and New Energies, Faculty of Sciences and Technics Mohammedia, Hassan II University, Casablanca, Morocco.

Pathology and Molecular Biology Center United Nations, Rabat Morocco.

出版信息

Pan Afr Med J. 2024 Nov 13;49:75. doi: 10.11604/pamj.2024.49.75.45306. eCollection 2024.

DOI:10.11604/pamj.2024.49.75.45306
PMID:39989937
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11846000/
Abstract

INTRODUCTION

lung cancer is the leading cause of cancer-related deaths worldwide, with a significant incidence in Morocco. The complex epidemiology of this disease in the country necessitates an in-depth analysis of genetic profiles to improve diagnosis and treatment. This study utilizes next-generation sequencing (NGS) to map genetic alterations in Moroccan patients with lung cancer, a field where molecular data is largely lacking. Importantly, this study presents a pioneering analysis of lung cancer in the Moroccan population using next-generation sequencing technology. While previous studies focused on a limited number of genes, our research provides a comprehensive and detailed perspective on the genetic alterations within this cohort, including the generation of an oncoprint.

METHODS

this study involved 100 histologically confirmed lung cancer patients. Genetic abnormalities were detected using the NGS technique with the Oncomine Precision Assay GX protocol. Lung biopsy samples were prepared, purified, and sequenced, with the resulting data analyzed to identify significant genetic variants.

RESULTS

the analysis revealed genetic alterations in 13 different genes, with a notable prevalence of mutations in the TP53, KRAS, and Epithelial Growth Factor Receptor (EGFR) genes. TP53 mutations were present in 27% of cases, while KRAS and EGFR showed mutations in 19% and 14% of samples, respectively. Clinically significant mutations were also identified in the ALK, MET, ERBB2, and ROS1 genes, highlighting substantial genomic diversity in this cohort.

CONCLUSION

the results of this study enhance the understanding of genetic alterations in Moroccan lung cancer patients and underscore the need to strengthen efforts for advanced molecular diagnosis in Morocco. The use of NGS has identified critical genetic mutations, facilitating the development of personalized treatments and improving clinical outcomes. These findings pave the way for future research aimed at refining diagnostic and therapeutic strategies, thereby contributing to better patient management.

摘要

引言

肺癌是全球癌症相关死亡的主要原因,在摩洛哥发病率也很高。该国这种疾病复杂的流行病学情况需要对基因谱进行深入分析,以改善诊断和治疗。本研究利用下一代测序(NGS)技术来绘制摩洛哥肺癌患者的基因改变图谱,该领域在很大程度上缺乏分子数据。重要的是,本研究使用下一代测序技术对摩洛哥人群的肺癌进行了开创性分析。虽然之前的研究集中在有限数量的基因上,但我们的研究提供了关于该队列中基因改变的全面而详细的观点,包括生成一张肿瘤印记图。

方法

本研究纳入了100例经组织学确诊的肺癌患者。使用Oncomine Precision Assay GX方案的NGS技术检测基因异常。制备、纯化并对肺活检样本进行测序,对所得数据进行分析以识别显著的基因变异。

结果

分析揭示了13个不同基因的基因改变,TP53、KRAS和表皮生长因子受体(EGFR)基因的突变发生率显著。TP53突变在27%的病例中出现,而KRAS和EGFR分别在19%和14%的样本中出现突变。在ALK、MET、ERBB2和ROS1基因中也鉴定出了具有临床意义的突变,突出了该队列中大量的基因组多样性。

结论

本研究结果增进了对摩洛哥肺癌患者基因改变的理解,并强调了摩洛哥加强先进分子诊断工作的必要性。NGS的使用已识别出关键的基因突变,促进了个性化治疗的发展并改善了临床结果。这些发现为未来旨在完善诊断和治疗策略的研究铺平了道路,从而有助于更好地管理患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/dc0f4999cc20/PAMJ-49-75-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/3f3126b41d78/PAMJ-49-75-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/da249a590311/PAMJ-49-75-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/b86b066d2da8/PAMJ-49-75-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/dc0f4999cc20/PAMJ-49-75-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/3f3126b41d78/PAMJ-49-75-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/da249a590311/PAMJ-49-75-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/b86b066d2da8/PAMJ-49-75-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/737c/11846000/dc0f4999cc20/PAMJ-49-75-g004.jpg

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本文引用的文献

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Efficacy and safety of crizotinib in the treatment of advanced non-small cell lung cancer with ROS1 gene fusion: a systematic literature review and meta-analysis of real-world evidence.克唑替尼治疗 ROS1 基因融合阳性晚期非小细胞肺癌的疗效和安全性:真实世界证据的系统文献回顾和荟萃分析。
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