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Abstract：
Background Gastrointestinal stromal tumors (GISTs) arise from Cajal\'s interstitial cell precursors and display a variety of genetic mutations, primarily in the KIT and PDGFRA genes. These mutations are linked to tumor location, prognosis, and response to treatment. This study delves into the mutational patterns of GISTs in a Mexican population and their impact on overall survival (OS) and disease-free survival (DFS). Methodology This retrospective study examined 42 GIST cases diagnosed at the Oncology Hospital of the National Medical Center XXI Century between January 2018 and December 2020. Clinical, histological, and immunohistochemical data were gathered, and mutational analysis of KIT and PDGFRA genes was conducted using second-generation sequencing. Results The study group consisted of 52.4% females and 47.6% males, with an average age of 62.6 years. The most common tumor site was the stomach (59.5%), followed by the small intestine (26.2%). KIT mutations were detected in 71.4% of cases, predominantly involving exon 11. PDGFRA mutations were observed in 7.1% of cases. Recurrence was noted in 9.5% of patients, all with high-risk tumors. No significant link was identified between specific mutations and OS or DFS. Conclusions This investigation sheds light on the genetic landscape of GISTs in the Mexican population. While no significant association was established between particular mutations and survival outcomes, the study emphasizes the importance of molecular profiling in treatment decision-making. Further studies with larger sample sizes and longer follow-up periods are necessary to validate these results and explore their clinical relevance.
摘要：
背景胃肠道间质瘤(GIST)起源于Cajal的间质细胞前体，并表现出多种基因突变。主要在KIT和PDGFRA基因中。这些突变与肿瘤位置有关,预后,以及对治疗的反应。这项研究探讨了墨西哥人群中GIST的突变模式及其对总体生存率（OS）和无病生存率（DFS）的影响。方法这项回顾性研究检查了2018年1月至2020年12月在21世纪国家医学中心肿瘤医院诊断的42例GIST病例。临床,组织学,并收集了免疫组织化学数据，使用第二代测序对KIT和PDGFRA基因进行突变分析。结果研究组女性占52.4%,男性占47.6%,平均年龄为62.6岁。最常见的肿瘤部位是胃（59.5%），其次是小肠（26.2%）。在71.4%的病例中检测到KIT突变，主要涉及外显子11.在7.1%的病例中观察到PDGFRA突变。9.5%的患者出现复发，都是高危肿瘤.在特定突变和OS或DFS之间没有发现显著的联系。结论这项调查揭示了墨西哥人群中GIST的遗传景观。虽然特定突变和生存结果之间没有显著关联，该研究强调了分子谱分析在治疗决策中的重要性.需要进一步研究更大的样本量和更长的随访时间来验证这些结果并探索其临床相关性。
