Background:
Intraluminal upper oesophageal lesions can be diagnostically challenging. Most cases are incidental, though symptomatic presentations with dysphagia or airway compromise can occur. Causes include fibrovascular polyps, a term traditionally used for such lesions. Recently it has been recognised that diagnosis should only be made after MDM2 amplification testing on fluorescence in situ hybridization (FISH) to differentiate from liposarcomas, which can recur or metastasise.
Methods:
We present the case of a 54 year old female with progressive dysphagia, odynophagia, globus sensation and neck pain. On examination, a mass appeared in the oropharynx when the patient coughed. CT revealed a 3cm intraluminal mass in the proximal oesophagus. The patient was referred to the Upper GI service for collaborative evaluation.
Results: Panendoscopy identified a 2x5cm pedunculated lesion originating from the hypopharynx and prolapsing into the oesophagus. Gross assessment and histology suggested giant fibrovascular polyp. However MDT evaluation raised suspicion of pleomorphic liposarcoma. MDM2 amplification on FISH confirmed well-differentiated liposarcoma.
Conclusion:
Head and neck sarcomas are rare, accounting for <1% of neoplasms in this region. Excision is essential for accurate diagnosis and prevention of recurrence. MDM2 amplification testing via FISH is crucial for distinguishing liposarcomas from fibrovascular polyps, ensuring accurate diagnosis and appropriate management.