A 22-year-old female was referred with dyspnea and wheezing and an initial diagnosis of allergic asthma. Several weeks before she was admitted to the intensive care unit with acute respiratory failure due to a presumed severe asthma exacerbation. After weaning from mechanical ventilation she received formoterol and beclomethasone. Auscultation revealed pulmonary wheezing and a high-pitched stridor. Spirometry showed expiratory airflow obstruction and signs of severe fixed intrathoracic stenosis.
In retrospect, previous chest X-rays showed an intratracheal mass close to the carina (Fig. 1a, blue arrow). Emergency computed tomography (CT) confirmed the presence of a large obstructing intratracheal mass (Fig. 1b, blue arrow). Emergency bronchoscopy was performed under general anesthesia and revealed a large endotracheal tumor, blocking the airway almost completely (Fig. 1c). Bronchoscopic debulking was performed using electrocautery and cryotherapy, leaving a patent airway with a small residual tumor (Fig. 1d). The tumor was located 4 tracheal rings (approximately 2 cm) above the carina. Recovery was uneventful and the patient was discharged the next day without any remaining symptoms.
Histopathological examination showed an unclassifiable atypical myxoid spindle cell neoplasm with focal ALK expression and negative staining for keratins, EMA, TLE-1, p63, CD31, CD34, ERG, S100, SOX-10, TTF-1, SMA, desmin, myf4 and MUC4. Molecular analysis showed an EWSR1-CREB1 translocation, which can be found in primary pulmonary myxoid sarcoma (PPMS), AFH and in several other sarcomas. Under the working diagnosis of PPMS the patient underwent magnetic resonance imaging of both brain and kidneys and a whole body fluorodeoxyglucose positron emission tomography and CT. Both did not reveal any distant metastases.
The remaining tumor was removed through a cervical approach with a partial distal tracheal resection and end-to-end anastomosis with interrupted 4–0 PDS sutures (and two lateral interrupted 2–0 Vicryl sutures for approximation and anastomotic tension release) (Fig. 1e, patient’s head is left). The excised part of the trachea was cut open anteriorly and showed a tumor with a diameter of 15 mm located on the membranaceous portion (Fig. 1f). High-frequency jet ventilation was used to allow temporal surgical interruption of the trachea. The patient was extubated immediately after the procedure. Recovery was uneventful and the patient was discharged three days after surgery.
Microscopically, the tumor was removed completely. Histopathological examination at low power magnification showed distinct features of AFH with tumor nodules of variable size surrounded by a thick fibrous capsule with a rim of lymphoplasmacytic cells (Fig. 2a). High power magnification showed solid tumor nodules composed of bland myoid spindle cells (Fig. 2b). On follow-up, three years after surgery, the patient is asymptomatic, uses no asthma medication, has normal spirometry, and does not show any signs of recurrent tumor growth.
