Life-threatening giant esophageal neurofibroma with severe tracheal stenosis: a case report

Abstract

BackgroundBenign esophageal tumors are relatively rare, and a neurofibroma in the esophagus is extremely rare. Dysphagia is the most common clinical manifestation in patients with esophageal neurofibroma, and no cases of giant esophageal neurofibroma with severe tracheal stenosis have been reported.Case presentationA 73-year-old woman presented with shortness of breath, and computed tomography scan exhibited a giant mediastinal tumor causing severe tracheal stenosis. An upper gastrointestinal endoscopy revealed a giant submucosal lesion without mucosal changes located 18–23 cm from the incisor teeth. 18F-fluorodeoxyglucose (FDG)-positron emission tomography image revealed an upper mediastinal homogeneous mass and left supraclavicular lymph node with increased FDG accumulation. We performed endoscopic ultrasound-guided fine-needle aspiration biopsy; however, a definitive diagnosis could not be determined. During further investigation, her shortness of breath suddenly worsened and she suffered from wheezing. Because of risk of smothering, we decided to perform quasi-urgent lifesaving surgery. Under the preparation of extracorporeal membrane oxygenation (ECMO) when tracheal intubation fails, bronchial blocker was inserted over the tracheal stenosis and the left-lung ventilation was performed via intubation alone. Under general anesthesia, the patient was placed in the left lateral position and we performed right thoracotomy. The tumor strongly adhered to the trachea; however, the trachea or recurrent laryngeal nerves were not damaged in the surgery. Following esophagectomy, we performed gastric conduit reconstruction through the posterior mediastinum, and hand-sewn anastomosis was performed in the left neck. Immunohistochemical staining was positive for S-100 but negative for c-KIT, CD34, α-SMA, and desmin; these morphological and immunohistochemical characteristics were consistent with the diagnosis of neurofibroma.ConclusionsIt is often difficult to diagnose esophageal neurofibroma preoperatively. The preparation of ECMO could be considered in patients with severe airway obstruction for safe tracheal intubation. This is the first case of life-threatening giant esophageal neurofibroma with severe tracheal stenosis.

Understanding esophageal neurofibroma: A case series and systematic review

“…Neurofibroma of the esophagus is a rare benign neoplasm usually made up of a combination of neural and connective tissues [ 1 , 4 ]. Reviews of esophageal submucosal tumors (SMTs) have reported a prevalence of about 0.9% [ 1 , 4 , 5 ]. While most cases of visceral organ neurofibromas are associated with genetic disorders such as Von Recklinghausen’s disease, isolated occurrences have been reported [ 6 ].…”

“…Of the three types, localized neurofibromas are the most common in the gastrointestinal (GI) tract. In fact, one case of plexiform neurofibroma of the GI tract is reported so far in the literature [ 1 , 7 ]. Solitary esophageal neurofibroma is the most common form of esophageal neurofibroma.…”

“…The full text, English version of seven articles were not available and they were excluded. Sixteen of the selected articles were individual case reports [ [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] ] and two were case series [ 1 , 18 ]. The PRISMA flowchart in Fig.…”

“… S100 CD 34 Endoscopic Submucosal Dissection Garcia-Valesquez et al [ 17 ] 2015 51 M No Incidental finding Lower esophagus CXR, MRI, EGD 4 × 3.2 S100, CD56 Wedge resection Somnath et al [ 18 ] 2015 50 M Yes Neck swelling, Dysphagia, Shortness of breath Upper esophagus MRI, Barium Swallow, FNA. 8 × 8 × 6 NR En bloc resection Yang et al [ 5 ] 2017 63 M No Dysphagia, Chest pain Upper esophagus (18 cm) EGD, EUS, Barium Swallow 12 × 3 × 2 PGP 9.5, Vimentin, Nestin, CD56 Enucleation Booka et al [ 1 ] 2018 73 F No Shortness of Breath Upper esophagus (18 cm–23 cm) EGD, EUS, MRI, 13 FDG Positron, FNA. 9 × 5 × 5 S100 Esophagectomy Present case 2020 60 M No Dysphagia Lower esophagus (37 cm) CT scan, EGD, EUS, MRI, FNA 5.9 × 1.8 × 2.0 ...…”

“…Benign esophageal tumors are not common and the majority of these tumors are leiomyomas which make up about 80% [ 1 , 2 ]. Neurofibromas are very rare benign neoplasms of the esophagus with less than 30 reported cases in the literature [ 1 ]. Due to the rarity of these tumors, there is limited data to understand the disease and there is currently no consensus on management algorithm.…”