Mazouji Omayma, Ouhajjou Abdelhak, Anouar Naima, Nejjari Chakib, Incitti Roberto, Mansour Hicham
GES-LCM2E, FPN, Mohamed First University, Oujda, Morocco.
Al-Azhar Oncology Center, Rabat, Morocco.
Sci Rep. 2025 Apr 1;15(1):11135. doi: 10.1038/s41598-025-88094-1.
Liquid biopsy gained significant interest in the area of cancer management. This study aims to evaluate the effectiveness of molecular testing using ctDNA (circulating tumor DNA) to; detect genetic alterations, screen for abnormalities, identify mutations associated with treatment sensitivity or resistance and guide therapy decision for several types of cancer in patients with metastasis. A total of 85 samples were collected from 74 patients recruited at our center, as part of their routine clinical follow-up. 17 different cancer types were analyzed. Genetic testing was conducted in patients with metastasis after failure of standard treatments. Sequencing was conducted in plasma-ctDNA samples; and when it was possible on the tumor tissue as well. Our analysis revealed that 88% (65 patients) of patients were eligible for treatment guidance using liquid biopsy. Among them, 64% (47 patients) received an FDA-approved drug, and treatment decisions were based on molecular testing using ctDNA. Somatic gene mutations were detected in 89% (66 patients) of the patients tested; 81% (60 patients) of patients had at least two mutations, 8% (6 patients) had only one mutation and 11% (8 patients) had no detected mutations. Interestingly, among the genes tested, BRCA2, EGFR, MSH6, and NF1 were the most frequently mutated in our patients. Our study highlights the potential benefits of personalized medicine through a non-invasive genetic testing across patients with metastasis regardless of the cancer types. Moreover, our study identified the frequent occurrence of specific gene mutations across various types of cancer, which paves the way for considering targeted therapies that could be applicable to multiple cancer types, rather than being restricted to just a few.
液体活检在癌症管理领域引起了广泛关注。本研究旨在评估使用ctDNA（循环肿瘤DNA）进行分子检测的有效性，以检测基因改变、筛查异常、识别与治疗敏感性或耐药性相关的突变，并为转移性癌症患者的几种癌症类型指导治疗决策。作为常规临床随访的一部分，我们中心共招募了74例患者，采集了85份样本，分析了17种不同的癌症类型。对标准治疗失败后的转移性患者进行了基因检测，对血浆ctDNA样本进行了测序，如有可能，也对肿瘤组织进行了测序。我们的分析显示，88%（65例患者）的患者符合使用液体活检进行治疗指导的条件。其中，64%（47例患者）接受了FDA批准的药物治疗，治疗决策基于使用ctDNA的分子检测。在接受检测的患者中，89%（66例患者）检测到体细胞基因突变；81%（60例患者）至少有两个突变，8%（6例患者）只有一个突变，11%（8例患者）未检测到突变。有趣的是，在检测的基因中，BRCA2、EGFR、MSH6和NF1在我们的患者中突变最为频繁。我们的研究强调了通过对转移性患者进行非侵入性基因检测实现个性化医疗的潜在益处，无论癌症类型如何。此外，我们的研究确定了特定基因突变在各种癌症类型中的频繁发生，这为考虑适用于多种癌症类型而非仅限于少数几种的靶向治疗铺平了道路。
