SARCOMA IN NEUROFIBROMATOSIS 1 CAUSING OBSTRUCTIVE SHOCK AND CENTRAL AIRWAY OBSTRUCTION

Abstract

SESSION TITLE: Tuesday Fellows Case Report Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive soft tissue sarcomas of neural origin. They affect young and middle-aged adults and often are resistant to chemotherapy. Prognosis is poor with early relapse, rapid progression, and high mortality. Half of MPNSTs occur in patients with neurofibromatosis 1 (NF1) with development in approximately 10% of NF1 patients. We present a case of a rapidly progressive MPNST causing obstructive shock and airway compromise. CASE PRESENTATION: A 20 year-old with NF1 was transferred for evaluation of a progressive MPNST. Four weeks prior he presented with chest pressure and imaging showed a large right-sided chest mass involving the posterior mediastinum. CT-guided biopsy was performed demonstrating a high-grade sarcoma consistent with MPNST. When he was transferred for higher level of care, he had worsening chest pain, shortness of breath at rest, orthopnea, and odynophagia. CT imaging revealed interval increase in size of a well-circumscribed heterogenous mass arising from the superior right pleura which measured 15 x 17 x 17 cm with a large portion of this mass bulging into the posterior mediastinum and displacing the heart anteriorly and compromising the distal trachea and right mainstem bronchus. Based on these findings, cardiology, cardiothoracic surgery, and interventional pulmonary were consulted for intervention. Rigid bronchoscopy was performed with placement of two tunneled 18 mm x 60 mm Ultraflex partially covered self-expandable metal stents in the trachea. Due to significant hemodynamic issues and difficulty advancing the scope into the right mainstem, a y-stent was not pursued. He had hemodynamic compromise during and after the procedure which prompted intubation and an intraoperative transesophageal echo showed a pericardial effusion with evidence of tamponade. A pericardial drain placed did not improve hemodynamics and he was placed on venous-arterial extracorporeal membrane oxygenation (VA-ECMO). After extensive discussion with the family and pediatric oncology, the decision was made to proceed with chemotherapy while on mechanical circulatory support with the hope that given the rapid growth of the tumor there would be a response. DISCUSSION: MPNSTs are a progressive tumor often presenting in the nerve roots and bundles of the extremities and pelvis. In most instances, the mass is greater than 5 cm on diagnosis and up to 50% present with metastatic disease, usually to the lung. Optimal management remains elusive with a reliance on surgical resection and high relapse rate. CONCLUSIONS: Early identification of MPNSTs in NF1, prompt referral, and a multidisciplinary approach are needed for diagnosis and treatment given the propensity for rapid disease progression. Reference #1: Farid M, Demicco E, Garcia R, et al. Malignant peripheral nerve sheath tumors. The Oncologist (2014); 19: 193-201. Reference #2: Linder C, Smith MJ, Bulman M, et al. Sarcoma in neurofibromatosis 2: case report and review. Familial Cancer (2019); 18: 97-100 DISCLOSURES: No relevant relationships by Laura Frye, source=Web Response No relevant relationships by Julie Lin, source=Web Response