在某些情况下，口腔癌是由潜在恶性病变先行的。试图通过豚鼠的异型性程度来确定发展恶性病变的风险。寻找基因突变和生物标志物作为更真实、可重复的诊断工具，试图填补解剖病理学研究的空白。在这方面，本次回顾性病例对照研究基于在圣母若西亚大学附属医院口腔颌面外科服务的22名患者的潜在恶性病变活检样本中检测已知NOTCH1基因突变。使用QIAGEN公司的Minikit QIAamp DNA FFPE组织提取试剂盒（参考文献56404）对样本去蜡提取DNA。随后，使用聚合酶酶进行了4个扩增反应。在对样本进行测序之前，使用INVITROGEN品牌的ExoSAP-IT PCR产物清洁试剂盒对其进行清洁。最后，使用TaqMan突变检测试剂盒来检测NOTCH1中的体细胞突变，并使用Mutation Detector软件进行突变分析。未检测到NOTCH1突变，所研究的样本没有突变，或者突变低于软件的检测限制。在本次样本的临床情况下，NOTCH1基因突变似乎不是很频繁，尽管在其他地理位置已将NOTCH1描述为与口腔癌相关的基因。关键词：口腔癌，NOTCH1，突变。版权所有：©2023 Medicina Oral S.L.

On certain occasions, oral cancer is preceded by potentially malignant lesions. The degree of dysplasia in Guinea pigs attempts to determine the risk of developing a malignant lesion. The search for genetic mutations, biomarkers, as a more truthful and reproducible diagnostic tool, tries to fill the gaps in the anatomopathological study. In this line, the present retrospective case-control study is based on the detection of known mutations of the NOTCH1 gene in biopsied samples of potentially malignant lesions from 22 patients who attend the Oral and Maxillofacial Surgery service of the Virgen del Rocío University Hospital.DNA extraction after dewaxing of the samples using the Minikit QIAamp DNA FFPE tissue extraction kit with extraction kit (reference 56404) of QIAGEN. Subsequently, with the DNA obtained, 4 amplification reactions were carried out using enzyme polymerase. Before sequencing the samples, they were purified with the ExoSAP-IT for PCR product cleaning kit of the INVITROGEN brand. Finally, to detect somatic mutations in NOTCH1, TaqMan Mutation Detection Assays was used and for the analysis of mutations we worked with the Mutation Detector software.The mutation for NOTCH1 is not detected, the studied sample does not present the mutation, or it is below the limits of detection of the software.In the clinical setting of the sample, the NOTCH1 mutation seems to be not very frequent, although NOTCH1 has been described as a gene related to oral cancer in other geographical settings. Key words:Oral cancer, NOTCH1, mutations.Copyright: © 2023 Medicina Oral S.L.