Xu Song, Li Xiongfei, Zhang Hongyi, Zu Lingling, Yang Lingqi, Shi Tao, Zhu Shuai, Lei Xi, Song Zuoqing, Chen Jun
Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.
Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin, China.
Front Oncol. 2021 Jul 8;11:667148. doi: 10.3389/fonc.2021.667148. eCollection 2021.
Thymic epithelial tumors (TETs) are relatively rare neoplasms, including thymomas (types A, AB, B1, B2, and B3) and thymic carcinomas (TCs). The current knowledge about the biological properties of TETs is limited due to their low incidence. This study aimed to detect genetic alterations in TETs using next-generation sequencing(NGS) and explore their clinical significance in survival.
Tumor tissues and clinical data were collected from 34 patients with resected TETs in the Tianjin Medical University General Hospital between January 2011 and January 2019, and 56 cancer-associated genes were analyzed. The data of 123 TETs were retrieved from TCGA, and the information on their clinical and somatic mutations was explored.
The cohort comprised 34 TETs including 17 thymomas and 17 TCs. The NGS results indicated that 73.08% of TCs+type B3 TETs and 37.50% of non-TCs+type B3 TETs each exhibited gene mutations. For patients with type B3/C, TP53 was the most frequent mutation (19.23%), followed by CDKN2A (11.54%). Similarly, in 123 TETs from the TCGA cohort, TP53 mutations were more frequent in patients with type B3/C than in patients with non-type B3/C (11.53% 3.09%). Further, patients with TET with TP53 mutations in the present cohort and the TCGA cohort had a worse prognosis compared with those without TP53 mutations.
Gene mutation profiles between TCs+type B3 TETs and non-TCs+type B3 TETs were significantly different. The presence of TP53 mutations was more frequent in TCs+type B3 TETs than in non-TCs+type B3 TETs, which was associated with a worse prognosis.
胸腺上皮肿瘤（TETs）是相对罕见的肿瘤，包括胸腺瘤（A、AB、B1、B2和B3型）和胸腺癌（TCs）。由于其发病率低，目前关于TETs生物学特性的知识有限。本研究旨在使用下一代测序（NGS）检测TETs中的基因改变，并探讨其在生存方面的临床意义。
收集2011年1月至2019年1月在天津医科大学总医院接受手术切除的34例TETs患者的肿瘤组织和临床数据，并分析56个癌症相关基因。从TCGA数据库中检索123例TETs的数据，并探索其临床和体细胞突变信息。
该队列包括34例TETs，其中17例胸腺瘤和17例胸腺癌。NGS结果显示，73.08%的胸腺癌+B3型TETs和37.50%的非胸腺癌+B3型TETs均出现基因突变。对于B3/C型患者，TP53是最常见的突变基因（19.23%），其次是CDKN2A（11.54%）。同样，在TCGA队列的123例TETs中，B3/C型患者的TP53突变比非B3/C型患者更常见（11.53%对3.09%）。此外，本队列和TCGA队列中发生TP53突变的TETs患者的预后比未发生TP53突变的患者更差。
胸腺癌+B3型TETs和非胸腺癌+B3型TETs之间的基因突变谱存在显著差异。胸腺癌+B3型TETs中TP53突变的发生率高于非胸腺癌+B3型TETs，且与较差的预后相关。
