全外显子测序及免疫相关指标在口腔鳞状细胞癌精准治疗中的应用价值
[Application value of whole exon sequencing and immune related indicators in the precision treatment of oral squamous cell carcinoma].
作者信息
Xie S, Cai Z G, Shan X F
机构信息
Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
出版信息
Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Aug 18;55(4):697-701. doi: 10.19723/j.issn.1671-167X.2023.04.021.
OBJECTIVE
To explore the significance and feasibility of whole exon sequencing and immune related indexes in personalized precision treatment of oral squamous cell carcinoma (OSCC).
METHODS
We retrospectively screened the patients who underwent surgery for oral cancer in Peking University Hospital of Stomatology and underwent genetic and immune biomarkers tests between January 2021 and June 2022. Combined with the clinicopathological characteristics of patients, potential targeted drugs and immunotherapy drugs were screened to evaluate the possibility of gene testing benefiting OSCC. The main evaluation indicators included the number of gene mutations, combined positive score (CPS), tumor mutation burden (TMB), microsatellite sequence status and human leukocyte antigen B (HLA-B) locus. Excel was used for statistical analysis.
RESULTS
A total of 10 patients were enrolled and 9 were included in this study, including 6 males and 3 females, with an average age of (55.44±9.59) years. The tumor location was buccal (5 cases), tongue (3 cases) and gingival (1 case). The results of genetic testing showed that 3 (33.3%) patients had no gene mutations in the tumor tissue, 5 (55.6%) patients had unique gene mutations, and 1 (11.1%) patient had and mutations. However, no drugs were available for targeted therapy of the mutated genes. The genetic tumor gene testing results showed that no genetic tumor gene was found in all the patients, suggesting that OSCC had a low possibi-lity of hereditary tumor. In terms of immune efficacy related markers, CPS test results showed that 8 patients had CPS≥1. TMB detection results showed that the median value of TMB value was 0.72 mutations/Mb, and the range was 0 to 4.32 mutations/Mb. The negative and positive control results of microsatellite sequence status were consistent, indicating that all the tumor tissues detected were microsatellite stability. The results of HLA-B detection showed that only one patient had gene mutation, suggesting that the B44 and B62 related genotypes of HLA-B in OSCC tissue samples were low.
CONCLUSION
The present results do not support the wide application and promotion of genetic testing and immune related indexes in OSCC.
目的
探讨全外显子测序及免疫相关指标在口腔鳞状细胞癌（OSCC）个体化精准治疗中的意义及可行性。
方法
回顾性筛选2021年1月至2022年6月期间在北京大学口腔医院接受口腔癌手术并进行基因及免疫生物标志物检测的患者。结合患者的临床病理特征，筛选潜在的靶向药物和免疫治疗药物，评估基因检测对OSCC的获益可能性。主要评估指标包括基因突变数量、联合阳性评分（CPS）、肿瘤突变负荷（TMB）、微卫星序列状态及人类白细胞抗原B（HLA-B）位点。采用Excel进行统计分析。
结果
共纳入10例患者，本研究最终纳入9例，其中男性6例，女性3例，平均年龄（55.44±9.59）岁。肿瘤部位为颊部（5例）、舌部（3例）和牙龈（1例）。基因检测结果显示，3例（33.3%）患者肿瘤组织无基因突变，5例（55.6%）患者有独特基因突变，1例（11.1%）患者有 及 突变。然而，针对这些突变基因尚无靶向治疗药物。遗传性肿瘤基因检测结果显示，所有患者均未发现遗传性肿瘤基因，提示OSCC发生遗传性肿瘤的可能性较低。在免疫疗效相关标志物方面，CPS检测结果显示8例患者CPS≥1。TMB检测结果显示，TMB值中位数为0.72个突变/Mb，范围为0至4.32个突变/Mb。微卫星序列状态的阴性和阳性对照结果一致，表明所有检测的肿瘤组织均为微卫星稳定。HLA-B检测结果显示，仅1例患者有 基因突变，提示OSCC组织样本中HLA-B的B44和B62相关基因型较低。
结论
目前结果不支持基因检测及免疫相关指标在OSCC中的广泛应用和推广。
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