Genetic insights from whole-exome sequencing in Moroccan patients with non-small cell lung cancer: a case report

Abstract Background and Aim Lung cancer is a leading cause of cancer-related deaths globally, with nonsmall cell lung cancer (NSCLC) accounting for 85% of cases. Despite advances in treatment, prognosis remains poor, particularly in developing countries with limited access to targeted therapies. Genetic alterations play a critical role in the development and progression of NSCLC, making the identification of these mutations essential for improving treatment strategies and patient outcomes. This study aimed to investigate the genetic susceptibility and molecular alterations associated with NSCLC in Moroccan patients. Cases Presentation Whole-exome sequencing (WES) was performed on three Moroccan patients diagnosed with NSCLC, recruited from Moulay Youssef Hospital in Rabat, using the Illumina HiSeq System. The patients included two with stage III lung squamous cell carcinoma (P1 and P2) and one with stage IV adenocarcinoma (P3). All three had significant smoking histories, ranging from 40 to 45 pack-years, but no family history of tumors or respiratory diseases. Fresh tumor and healthy tissue samples, along with peripheral blood, were collected before any treatment or neoadjuvant therapy. Genetic analysis was further complemented by a targeted panel of 26 well-established cancer-related genes, identifying seven variants across six of these genes. Some variants were previously reported in lung cancer studies, while others were novel. The mutations found in these patients suggest a wide spectrum of genetic alterations that could contribute to NSCLC progression in this cohort. Conclusions This study highlights the genetic diversity within NSCLC subtypes and emphasizes the need for further research to determine the functional impact of these mutations. By providing insights into the genetic landscape of Moroccan NSCLC patients, this case report underscores the importance of expanding genomic studies to better understand lung cancer pathogenesis across diverse populations.