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. 2021 Apr;10(4):1410-1417.
doi: 10.21037/gs-21-157.

Mutational landscape of thymic epithelial tumors in a Chinese population: insights into potential clinical implications

Hongbiao Wang  1 , Xiaohua Xu  2 , Lan Luo  3 , Chunbing Wang  4 , Zeyong Jiang  5 , Yingcheng Lin  1
Affiliations

Mutational landscape of thymic epithelial tumors in a Chinese population: insights into potential clinical implications

Hongbiao Wang et al. Gland Surg. 2021 Apr.

Abstract

Background: Thymic epithelial tumors (TETs) are a heterogeneous group of rare malignancies which may be devastating, difficult to treat, and for which treatment options are limited. Herein, we investigated the comprehensive genomic alterations of TETs in a Chinese population for providing clinical management, especially targeted therapy.

Methods: Comprehensive genomic profiling (CGP) was performed with DNA targeted sequencing of cancer-associated genes (CSYS) from a cohort of 40 Chinese TET patients. TMB was measured by an in-house algorithm. MSI status was inferred based on the MANTIS (Microsatellite Analysis for Normal-Tumor InStability) score. The expression status of PD-L1 was estimated by immunohistochemistry.

Results: The mutational profiling of thymomas (Ts) and thymic neuroendocrine tumors (TNETs) showed scattered mutation distributions with no recurrently mutated genes. In contrast, thymic carcinomas (TCs) did show highly recurrent mutations including CDKN2A, CYLD, CDKN2B, and TP53. Among them, CDKN2A and CDKN2B mutations were the top potentially actionable alterations in TCs. PD-L1 expression was mainly present in Ts and TCs, and was predominant in males and smokers.

Conclusions: Our study provided a comprehensive genetic alteration view on the largest Chinese cohort of TETs to date. The results identified different genomic mutational profiles of Ts, TCs, and TNETs, and analyzed potential druggable biomarkers with clinical implications in Chinese TET patients, which provided the evidence for precision medicine of rare TET patients.

Keywords: Thymic epithelial tumors (TETs); actionable mutations; mutational landscape; thymic carcinomas (TCs); thymic neuroendocrine tumors (TNETs); thymomas (Ts).

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Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/gs-21-157). The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Molecular landscape of genetic alterations in all 40 TETs. TET, thymic epithelial tumor; T, thymoma; TC, thymic carcinoma; TNET, thymic neuroendocrine tumor.
Figure 2
Figure 2
Actionable mutations identified in 40 TETs. TET, thymic epithelial tumor.
See this image and copyright information in PMC

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