Esophageal perforation secondary to esophageal gastrointestinal stromal tumor

Central MessageEsophageal perforation from ruptured esophageal GIST can be managed with chest washout and esophageal stent followed by imatinib therapy.See Commentary on page XXX. Esophageal perforation from ruptured esophageal GIST can be managed with chest washout and esophageal stent followed by imatinib therapy. See Commentary on page XXX. Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the gastrointestinal tract. The esophagus is the primary site in 2% to 3% of GISTs1Zhong Y. Deng M. Liu B. Chen C. Li M. Xu R. Primary gastrointestinal stromal tumors: current advances in diagnostic biomarkers, prognostic factors and management of its duodenal location.Intractable Rare Dis Res. 2013; 2: 11-17Google Scholar with the distal esophagus (81%-92%) being the most common location.2Lott S. Schmieder M. Mayer B. et al.Gastrointestinal stromal tumors of the esophagus: evaluation of a pooled case series regarding clinicopathological features and clinical outcome.Am J Cancer Res. 2015; 5: 333-343PubMed Google Scholar,3Pence K. Correa A.M. Chan E. Khaitan P. Hofstetter W. Kim M.P. Management of esophageal gastrointestinal stromal tumor: review of one hundred seven patients.Dis Esophagus. 2017; 30: 1-5Crossref Scopus (20) Google Scholar Treatment of GISTs typically include a combination of surgery and targeted systemic therapy. Common symptoms of esophageal GIST include dysphagia (53%-57%), weight loss (14%-20%), and bleeding (12%-16%).2Lott S. Schmieder M. Mayer B. et al.Gastrointestinal stromal tumors of the esophagus: evaluation of a pooled case series regarding clinicopathological features and clinical outcome.Am J Cancer Res. 2015; 5: 333-343PubMed Google Scholar,3Pence K. Correa A.M. Chan E. Khaitan P. Hofstetter W. Kim M.P. Management of esophageal gastrointestinal stromal tumor: review of one hundred seven patients.Dis Esophagus. 2017; 30: 1-5Crossref Scopus (20) Google Scholar Perforation is an extremely rare complication of esophageal GIST.4Sjogren P.P. Banerji N. Batts K.P. Graczyk M.J. Dunn D.H. Rare presentation of a gastrointestinal stromal tumor with spontaneous esophageal perforation: a case report.Int J Surg Case Rep. 2013; 4: 636-639Crossref PubMed Scopus (7) Google Scholar Due to its infrequency, there are limited data in the literature to guide management. Herein, we present a case of esophageal perforation secondary to an esophageal GIST managed with chest washout and stent placement, followed by imatinib therapy. The patient is a 60-year-old man with past medical history of hypertension and atrial fibrillation who presented to the emergency department of an outside hospital with 4 days of right upper quadrant abdominal pain, nausea, nonbloody emesis, nonproductive cough, and chills. He underwent chest computed tomography scan that demonstrated a 16-cm necrotic mass with an associated fluid collection in the right pleural space (Figure 1). Urgent endoscopy demonstrated perforation in the distal esophagus. He was then transferred to a tertiary care center for definitive management. Upon transfer the patient was brought to the operating room for right video-assisted thoracoscopic surgery chest washout and a diagnostic biopsy of the tumor was performed. Esophagogastroduodenoscopy demonstrated frank perforation at 38 cm from incisor. We were able to traverse the stenosis with a scope. Due to unknown diagnosis of this tumor, the tumor resection was not considered at this time. Instead, an esophageal stent was placed over the perforation and a gastrojejunostomy tube was placed for feeding access. The patient's postoperative course was complicated by worsening leukocytosis and persistent pneumomediastinum, and he was taken back to the operating room 2 days later for re-exploration of the right chest: open thoracotomy, decortication, and debulking of the mediastinal mass for better drainage of the empyema. Final pathology was positive for GIST. Given the known efficacy of targeted imatinib, likelihood of local dissemination from its rupture, and to avoid leaving the patient in discontinuity, the tumor was not resected. He was started on imatinib 400 mg daily on postoperative day 7. His chronic empyema was managed via drainage with a chest tube and serial esophageal stent exchanges (Figure 2). His postoperative course was uncomplicated. His esophageal stent was ultimately removed 6 months after confirming closure of the fistula. The patient continues to follow-up in clinic, and he remains on imatinib. A 12-month follow-up computed tomography scan (6 months after stent removal) demonstrated a reduced tumor size to 3.8 × 7.4 cm (Figure E1). The patient is currently tolerating a regular diet. At the time of manuscript submission, he is maintaining a response to GIST with imatinib and there is no evidence that GIST has gained resistance to imatinib. Consent was obtained for the use of clinical data and images. The University of Southern California Internal Review Board granted exemption from approval after reviewing the study protocol (UP-24-00179) on February 21, 2024. Here we present the case of a patient with esophageal perforation from esophageal GIST. Our initial management of the perforation included esophageal stent placement with chest washout. The patient was subsequently started on imatinib, and the esophageal perforation was controlled with serial stenting for 6 months. The literature regarding management of esophageal perforation from esophageal GIST is limited, given the rarity of this clinical entity. In this case, we opted for chest washout and esophageal stent placement, because the diagnosis of GIST was not finalized. Even after having the diagnosis of GIST, we did not pursue esophagectomy because of possible dissemination from the ruptured GIST, surgical complexity, and the patient's critical condition, which would have necessitated leaving him in discontinuity. The marginal benefit for an R1 resection did not justify the risk and morbidity of esophagectomy. For unresectable GIST, imatinib plays a critical role. The Study of the Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing c-Kit Gene (B2222) trial, a randomized controlled trial of imatinib for unresectable or metastatic GIST, showed that almost half of patients with advanced GIST who were treated with imatinib survived more than 5 years.5Blanke C.D. Demetri G.D. von Mehren M. et al.Long-term results from a randomized phase II trial of standard- versus higher-dose imatinib mesylate for patients with unresectable or metastatic gastrointestinal stromal tumors expressing KIT.J Clin Oncol. 2008; 26: 620-625Crossref PubMed Scopus (889) Google Scholar In this case, closure of the fistula could be achieved with esophageal stenting and appropriate drainage while the patient was maintained on imatinib therapy. We present a case of esophageal perforation secondary to ruptured esophageal GIST, which was treated with chest washout and esophageal stent placement, and subsequently with imatinib therapy. Based on the experience from this case, even in cases of unresectable ruptured esophageal GIST, imatinib can be a treatment option when the empyema is appropriately managed. The authors reported no conflicts of interest. The Journal policy requires editors and reviewers to disclose conflicts of interest and to decline handling or reviewing manuscripts for which they may have a conflict of interest. The editors and reviewers of this article have no conflicts of interest.