Barachini Serena, Pardini Eleonora, Burzi Irene Sofia, Sardo Infirri Gisella, Montali Marina, Petrini Iacopo
Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, Italy.
Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Cancers (Basel). 2023 Dec 29;16(1):166. doi: 10.3390/cancers16010166.
Thymic epithelial tumors, comprising thymic carcinomas and thymomas, are rare neoplasms. They differ in histology, prognosis, and association with autoimmune diseases such as myasthenia gravis. Thymomas, but not thymic carcinomas, often harbor GTF2I mutations. Mutations of CDKN2A, TP53, and CDKN2B are the most common thymic carcinomas. The acquisition of mutations in genes that control chromatin modifications and epigenetic regulation occurs in the advanced stages of thymic carcinomas. Anti-angiogenic drugs and immune checkpoint inhibitors targeting the PD-1/PD-L1 axis have shown promising results for the treatment of unresectable tumors. Since thymic carcinomas are frankly aggressive tumors, this report presents insights into their oncogenic drivers, categorized under the established hallmarks of cancer.
胸腺上皮肿瘤，包括胸腺癌和胸腺瘤，是罕见的肿瘤。它们在组织学、预后以及与重症肌无力等自身免疫性疾病的关联方面存在差异。胸腺瘤（而非胸腺癌）常常存在GTF2I基因突变。CDKN2A、TP53和CDKN2B的突变是最常见的胸腺癌。控制染色质修饰和表观遗传调控的基因发生突变出现在胸腺癌的晚期阶段。针对PD-1/PD-L1轴的抗血管生成药物和免疫检查点抑制剂在治疗不可切除肿瘤方面已显示出有前景的结果。由于胸腺癌是侵袭性很强的肿瘤，本报告深入探讨了其致癌驱动因素，并按照已确立的癌症特征进行了分类。
