Department of Oncology, Second People's Hospital of Yunnan Province, Kunming, China.
OrigiMed, Shanghai, China.
J Gene Med. 2021 Jul;23(7):e3340. doi: 10.1002/jgm.3340. Epub 2021 May 5.
Ectopic thymic carcinoma (TC) is an extremely rare disease with a poor prognosis. The main treatment for early TC is surgery, although an effective treatment for advanced TC is lacking.
We present the case of a 61-year-old man with advanced posterior mediastinum thymic squamous cell carcinoma. Amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) analysis was used to investigate the molecular and mutational characteristics of this tumour.
After chemotherapy and radiotherapy, the tumour showed disease progression. Immunohistochemistry revealed that the tumour was positive for CD117 (specific for primary TC), CK19, CD56 and Ki67. ARMS-PCR analysis revealed an EGFR exon 19 deletion in the patient. The patient subsequently received icotinib treatment and achieved complete remission for 3 years.
This case report suggests that tyrosine kinase inhibitors are a potential treatment strategy for patients with TC harbouring EGFR alterations.
胸腺癌是一种罕见的疾病，预后不良。早期胸腺癌的主要治疗方法是手术，而晚期胸腺癌缺乏有效的治疗方法。
我们报告了一例 61 岁男性患有晚期后纵隔胸腺癌患者的病例。采用扩增受阻突变系统（ARMS）-聚合酶链反应（PCR）分析方法研究了该肿瘤的分子和突变特征。
化疗和放疗后，肿瘤出现疾病进展。免疫组织化学显示肿瘤对 CD117（原发性胸腺癌的特异性）、CK19、CD56 和 Ki67 呈阳性。ARMS-PCR 分析显示患者存在 EGFR 外显子 19 缺失。随后，患者接受了厄洛替尼治疗，3 年完全缓解。
本病例报告提示，针对 EGFR 改变的胸腺癌患者，酪氨酸激酶抑制剂可能是一种潜在的治疗策略。
