胸腺癌是一种极其罕见的癌症，年发病率仅为每 10 万人中 0.15-0.29 例。由于其稀有性，仅开发出少数经过验证的治疗方法。了解其基因谱对于靶向治疗的开发至关重要。然而，有限的研究专门检查了胸腺癌突变，大多数研究结合了胸腺瘤和胸腺癌。本文回顾了仅针对胸腺癌的遗传学研究结果，并将其与胸腺瘤进行了比较。我们对胸腺癌基因组学的相关英文研究进行了 PubMed 检索。然后，利用靶测序或全外显子组测序对关键论文进行分析。最常见的突变基因是TP53、CDKN2A、CDKN2B、CYLD、KIT、TET2、SETD2、BAP1和ASXL1。 TP53 和 CDKN2A 与不良预后相关。 CYLD 调节与增殖相关的信号传导，并与 AIRE 表达和 T 细胞发育相互作用，可能预测免疫治疗反应。 KIT 突变可能使靶向治疗成为可能。 TET2、SETD2、BAP1 和 ASXL1 调节表观遗传学，表明这些机制被破坏。较高的肿瘤突变负荷 (TMB) 和 16q 缺失可区分胸腺癌和胸腺瘤。尽管某些拷贝数畸变是相同的，但胸腺癌表现出与胸腺瘤不同的突变谱。胸腺癌表现出独特的基因组景观，表明其分子发病机制与胸腺瘤不同。我们的研究结果揭示了 TP53/CDKN2A 等预后生物标志物和 KIT 等潜在治疗靶点。由于胸腺癌极为罕见，因此共享分子分析数据可以为推动这些肿瘤发展的分子机制提供有价值的见解。2024 纵隔。版权所有。

Thymic carcinoma is an exceptionally rare cancer, with an annual incidence of just 0.15-0.29 per 100,000 people. Owing to its rarity, only few proven treatments have been developed. Understanding its genetic profile is crucial for the development of targeted therapies. However, limited studies have exclusively examined thymic carcinoma mutations, with most investigation combining thymomas and thymic carcinomas. This paper reviews findings from genetic studies focusing on thymic carcinoma alone and compares them to those of thymoma.We conducted a PubMed search for relevant English studies on thymic carcinoma genomics. Then, key papers utilizing target sequencing or whole-exome sequencing were analyzed.The most frequently mutated genes were TP53, CDKN2A, CDKN2B, CYLD, KIT, TET2, SETD2, BAP1, and ASXL1. TP53 and CDKN2A are correlated with poor prognosis. CYLD, which regulates signaling related with proliferation and interacts with AIRE expression and T cell development, might predict the immunotherapy response. KIT mutations might enable targeted therapy. TET2, SETD2, BAP1, and ASXL1 regulate epigenetics, suggesting disruption of these mechanisms. Higher tumor mutational burden (TMB) and 16q loss distinguish thymic carcinoma from thymoma. Although some copy number aberrations are shared, thymic carcinoma exhibits a mutational profile distinct from that of thymoma.Thymic carcinoma demonstrates a unique genomic landscape, suggesting a molecular pathogenesis distinct from that of thymoma. Our findings revealed prognostic biomarkers such as TP53/CDKN2A and potential therapeutic targets such as KIT. Because thymic carcinoma is extremely rare, sharing molecular profiling data could provide valuable insights into the molecular mechanisms driving the development of these tumors.2024 Mediastinum. All rights reserved.