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

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.

Robot-assisted minimally invasive bronchial resection with primary anastomosis for schwannoma arising from left main bronchus: a case report

“…To summarize the treatment options for tracheobronchial schwannoma, we searched the cases with the combination of terms via PubMed, and identified 56 cases in the full-text available reports written in English ( Table 1 ). Among those surgery-applied cases, 13 trachea-located schwannomas were treated with tracheotomy ( 14 , 18 , 21 - 23 , 36 - 38 , 43 , 47 , 53 , 54 , 59 ), 14 bronchus-located schwannomas received surgeries including pneumonectomy, lobectomy, segmentectomy, or bronchial resection ( 3 , 16 , 19 , 24 - 27 , 35 , 39 , 40 , 42 , 45 , 46 , 52 ). Others received endoscopic interventions as primary treatments or follow-up ( 7 , 13 , 15 , 17 , 20 , 28 - 34 , 41 , 44 , 48 - 51 , 55 - 58 ).…”