Abstract: 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.
Keywords: tracheal tumor, schwannoma, surgical treatment, whole-exome sequencing, mutation