Xia Chunqiu, Liu Minghui, Niu Xiaoyu, Li Xin, Chen Jun
Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, 300052, People's Republic of China.
Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin, 300052, People's Republic of China.
Cancer Manag Res. 2022 Mar 12;14:1125-1129. doi: 10.2147/CMAR.S353146. eCollection 2022.
Primary tracheal schwannoma is a rare disease with no specific symptoms. At the molecular level, neurofibromatosis type 2 (NF2) gene mutation of Schwann cells is the major tumorigenic element. Herein, we present the case of a 54-year-old man with refractory shortness of breath and dry cough, which was resistant to bronchodilator treatment. Computed tomography revealed a transmural mass in the dorsolateral trachea. The tumor was surgically resected, and the diagnosis of schwannoma was confirmed by pathological examination. Furthermore, for this case, we performed whole-exome sequencing and identified several novel mutated schwannoma genes. The specific roles of these mutations need further confirmation.
原发性气管神经鞘瘤是一种罕见疾病，无特异性症状。在分子水平上，施万细胞的2型神经纤维瘤病（NF2）基因突变是主要的致瘤因素。在此，我们报告一例54岁男性患者，患有难治性呼吸急促和干咳，对支气管扩张剂治疗无效。计算机断层扫描显示气管背外侧有一个透壁肿块。肿瘤经手术切除，病理检查确诊为神经鞘瘤。此外，对于该病例，我们进行了全外显子测序，鉴定出几个新的神经鞘瘤突变基因。这些突变的具体作用需要进一步证实。
