■胸腺癌是一种非常罕见的癌症，年发病率仅为每10万人0.15-0.29。由于它的稀有性,只有少数经过验证的治疗方法被开发出来。了解其遗传特征对于靶向治疗的发展至关重要。然而,有限的研究只检查了胸腺癌突变，大多数研究结合胸腺瘤和胸腺癌。本文回顾了仅针对胸腺癌的遗传研究的发现，并将其与胸腺瘤进行了比较。
■我们进行了PubMed搜索相关英文胸腺肿瘤基因组学研究。然后，利用靶测序或全外显子组测序的关键论文进行了分析.
■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,它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，可以预测免疫疗法的反应。KIT突变可能实现靶向治疗。TET2、SETD2、BAP1和ASXL1调节表观遗传学，表明这些机制的破坏。较高的肿瘤突变负荷（TMB）和16q丢失将胸腺癌与胸腺瘤区分开。尽管共享了一些拷贝数偏差，胸腺癌表现出与胸腺瘤不同的突变谱。
■胸腺癌展示了独特的基因组景观，提示与胸腺瘤不同的分子发病机制。我们的发现揭示了预后生物标志物如TP53/CDKN2A和潜在的治疗靶点如KIT。因为胸腺癌极为罕见,共享分子谱分析数据可以为驱动这些肿瘤发展的分子机制提供有价值的见解.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
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