Primary subglottic BCOR family sarcoma masquerading as refractory asthma: a case report

BCOR family sarcomas are rare mesenchymal tumors, usually arising in bone or soft tissue, and involvement of the upper airway is exceedingly uncommon. Their nonspecific respiratory presentation can mimic asthma, leading to delayed diagnosis. This case highlights a primary subglottic BCOR sarcoma presenting as refractory asthma, emphasizing a rare site and a diagnostic pitfall.

A 26-year-old woman presented with persistent wheezing and progressive dyspnea, which were initially treated as asthma with partial improvement. Imaging revealed a subglottic mass causing critical airway narrowing. The symptoms progressed to upper airway obstruction. An emergency tracheotomy was performed at the tertiary hospital prior to endoscopic resection. Histopathology and immunohistochemistry confirmed an undifferentiated BCOR family sarcoma. Treatment was started by consensus at a multidisciplinary team meeting, and neoadjuvant chemotherapy was given, but the tumor progressed. Endoscopic left hemilaryngectomy was attempted; positive margins necessitated a total laryngectomy. At the 3-year follow-up, the patient remained disease-free.

Subglottic sarcomas are rare and often misdiagnosed due to overlapping asthma-like symptoms. Red flag signs, such as stridor, hoarseness, and poor response to bronchodilators, should prompt urgent imaging and endoscopic evaluation. Complete surgical resection is the cornerstone of treatment.

This case emphasizes the need to consider upper airway tumors in patients with refractory asthma and the importance of increased awareness of the unusual presentation of a BCOR-family sarcoma of the upper airway. Early imaging and specialist referral can prevent diagnostic delay and reduce the need for extensive surgery.