Abstract：
To identify genetic alterations associated with tongue cancer recurrence in young adults, whole exome sequencing of the primary tumor, recurrence, and whole blood samples from young patients with tongue cancer was performed. A frameshift mutation in the TP53 gene was detected in the primary tumor and recurrence tumor tissue. A mutation in the EPHB6 gene was detected in the recurrence and was absent in the primary tumor. In addition, the primary tumor and recurrence tongue cancer tissue harbored amplification of the 20p13 region containing C20orf96, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, and ZCCHC3 genes. Thus, genetic alterations have been identified that are associated with tongue cancer recurrence in young adults.
摘要：
为了确定与年轻人舌癌复发相关的遗传改变，原发肿瘤的整个外显子组测序，复发,并对年轻舌癌患者的全血样本进行了检测。在原发肿瘤和复发肿瘤组织中检测到TP53基因的移码突变。在复发中检测到EPHB6基因的突变，而在原发肿瘤中不存在。此外,原发性肿瘤和复发舌癌组织包含20p13区域的扩增，该区域包含C20orf96，DEFB125，DEFB126，DEFB127，DEFB128，DEFB129，DEFB132和ZCCHC3基因。因此，已经确定了与年轻人舌癌复发相关的遗传改变。
