Abstract：
We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC).
Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel. In addition, a set of somatic mutations previously described in HNSCC were selected for validating in tumor, plasma, and saliva by digital droplet PCR.
The TST170 panel identified 13 non-synonymous somatic mutations, of which five were detected in tumoral tissue, other five in plasma cfDNA, and three in both tissue and plasma cfDNA. Of the eight somatic mutations identified in tissue, three were also identified in plasma cfDNA, showing an overall concordance rate of 37.5%.
This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic.
Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel. In addition, a set of somatic mutations previously described in HNSCC were selected for validating in tumor, plasma, and saliva by digital droplet PCR.
The TST170 panel identified 13 non-synonymous somatic mutations, of which five were detected in tumoral tissue, other five in plasma cfDNA, and three in both tissue and plasma cfDNA. Of the eight somatic mutations identified in tissue, three were also identified in plasma cfDNA, showing an overall concordance rate of 37.5%.
This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic.
摘要：
背景：我们探讨了TruSight肿瘤170组（TST170）用于检测肿瘤中的体细胞突变和来自局部复发性和/或转移性头颈部鳞状细胞癌（HNSCC）的cfDNA。
方法:使用TST170组进行肿瘤DNA和血浆cfDNA的靶向NGS。此外,选择先前在HNSCC中描述的一组体细胞突变用于在肿瘤中验证，等离子体,和唾液通过数字液滴PCR。
结果：TST170小组鉴定了13种非同义体细胞突变，其中五个在肿瘤组织中检测到，血浆中的其他五个cfDNA，组织和血浆cfDNA中均有三个。在组织中发现的八种体细胞突变中，在血浆cfDNA中也鉴定了三个，总体符合率为37.5%。
结论：这项初步研究表明，使用单一方法检测HNSCC患者肿瘤和血浆中的体细胞突变是可能的，这将有助于临床上个性化医疗的临床实施。
方法:使用TST170组进行肿瘤DNA和血浆cfDNA的靶向NGS。此外,选择先前在HNSCC中描述的一组体细胞突变用于在肿瘤中验证，等离子体,和唾液通过数字液滴PCR。
结果：TST170小组鉴定了13种非同义体细胞突变，其中五个在肿瘤组织中检测到，血浆中的其他五个cfDNA，组织和血浆cfDNA中均有三个。在组织中发现的八种体细胞突变中，在血浆cfDNA中也鉴定了三个，总体符合率为37.5%。
结论：这项初步研究表明，使用单一方法检测HNSCC患者肿瘤和血浆中的体细胞突变是可能的，这将有助于临床上个性化医疗的临床实施。
