Molecular Features of a Primary Transmural Tracheal Schwannoma: Clinical Experience and Review of the Literature

Abstract

Chunqiu Xia,1,* Minghui Liu,1,* Xiaoyu Niu,1 Xin Li,1 Jun Chen1– 3 1Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, 300052, People’s Republic of China; 2Tianjin 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; 3Department of Thoracic Surgery, First Affiliated Hospital, School of Medicine, Shihezi University, Shihezi, Xinjiang, 832008, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jun Chen; Xin Li, Email [email protected]; [email protected]: 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

Keywords

• tracheal tumor
• schwannoma
• surgical treatment
• whole-exome sequencing
• mutation