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Journal of Peking University (Health Sciences) ›› 2023, Vol. 55 ›› Issue (4): 697-701. doi: 10.19723/j.issn.1671-167X.2023.04.021

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Application value of whole exon sequencing and immune related indicators in the precision treatment of oral squamous cell carcinoma

Shang XIE,Zhi-gang CAI,Xiao-feng SHAN*()   

  1. 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
  • Received:2022-10-10 Online:2023-08-18 Published:2023-08-03
  • Contact: Xiao-feng SHAN E-mail:kqsxf@263.net
  • Supported by:
    the National Key Research and Development Program of China(2022YFC2504200);the National Natural Science Foundation of China(82002878);the Program for New Clinical Techniques and Therapies of Peking University Hospital of Stomatology(PKUSSNCT-22A14)

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Abstract:

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 TP53 gene mutations, and 1 (11.1%) patient had TP53 and CHEK1 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 B62 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.

Key words: Carcinoma, squamous cell, Mouth neoplasms, Whole exome sequencing, Genetic testing, Precision medicine

CLC Number: 

  • R739.8

Table 1

Summary of clinicopathological parameters of included 9 patients"

PatientAge/yearsGenderTumor subsitesT stageN stageM stageDepth of invasion/cmPrecancerous lesions
143MaleTongueT2100.7Oral lichen planus
253FemaleBuccalT2001.0No
361FemaleBuccalT3203.0No
449MaleTongueT2000.2No
573FemaleBuccalT2000.8No
659MaleGingivalT3002.0No
743MaleTongueT1000.3No
858MaleBuccalT3102.0No
960MaleBuccalT3202.0No

Table 2

Test results of immunosuppressant related indicators"

PatientCPSTMB/(mutations/Mb)Microsatellite sequence statusDetection HLA-B mutation site (B44 or B62 related genotypes)
141.44MSSNone
2800.72MSSNone
3421.44MSSNone
4903.6MSSNone
5300.69MSSNone
610.49MSSNone
7< 10MSSNone
8354.32MSSNone
9600MSSB62-related genotypes
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