Mediastinal epithelioid inflammatory myofibroblastic sarcoma with the EML4‐ALK fusion: A case report and literature review

Abstract

Abstract Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is an aggressive subtype of inflammatory myofibroblastic tumour which rarely affects the chest cavity. We, for the first time, report a case of mediastinal EIMS with the EML4‐ALK fusion. A young woman presented to our hospital with cough, chest tightness and shortness of breath. Computed tomography (CT) showed a mixed attenuation soft‐tissue mass in the right middle and upper mediastinum. Negative results were obtained from bronchoscopy forceps biopsy and endobronchial ultrasound‐guided transbronchial fine needle aspiration. CT‐guided percutaneous biopsy was finally performed. However, due to the rapidly progressed EIMS that compressed the trachea and right main bronchus, the patient died of respiratory failure 1 day before diagnosis. EIMS progresses rapidly, and an early diagnosis is important. For mediastinal EIMS, CT‐guided percutaneous biopsy may be useful. Next‐generation sequencing of blood may be instructive to EIMS patients who are intolerant to invasive biopsy.

Keywords

• EML4‐ALK fusion
• epithelioid inflammatory myofibroblastic sarcoma
• inflammatory myofibroblastic tumour
• mediastinal tumour
• percutaneous mediastinal biopsy