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

IF 1 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pan African Medical Journal Pub Date : 2024-11-13 eCollection Date: 2024-01-01 DOI:10.11604/pamj.2024.49.75.45306
Ouafaa Morjani, Noura Mounaji, Meriem Ghaouti, Hassan Errihani, Elmostafa El Fahime, Hamid Lakhiari
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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.

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下一代测序和基因组图谱:摩洛哥肺癌的精确分子诊断。
导言:肺癌是全世界癌症相关死亡的主要原因,摩洛哥的发病率很高。这种疾病在该国的复杂流行病学需要深入分析遗传概况,以改进诊断和治疗。这项研究利用下一代测序(NGS)来绘制摩洛哥肺癌患者的遗传改变,这是一个分子数据很大程度上缺乏的领域。重要的是,这项研究提出了一个开创性的分析肺癌在摩洛哥人口使用下一代测序技术。虽然以前的研究集中在有限数量的基因上,但我们的研究提供了一个全面而详细的视角来研究这一队列中的遗传改变,包括肿瘤印记的产生。方法:本研究纳入100例经组织学证实的肺癌患者。使用NGS技术和Oncomine Precision Assay GX协议检测遗传异常。制备肺活检样本,纯化并测序,分析结果数据以确定重要的遗传变异。结果:分析揭示了13个不同基因的遗传改变,其中TP53、KRAS和上皮生长因子受体(EGFR)基因的突变显著流行。27%的病例中存在TP53突变,而KRAS和EGFR分别在19%和14%的样本中出现突变。在ALK、MET、ERBB2和ROS1基因中也发现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:本研究的结果增强了对摩洛哥肺癌患者遗传改变的理解,并强调需要加强摩洛哥先进分子诊断的努力。NGS的使用已经确定了关键的基因突变,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改进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。
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来源期刊
Pan African Medical Journal
Pan African Medical Journal PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-
CiteScore
1.80
自引率
0.00%
发文量
691
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