Primary Pulmonary Epithelioid Inflammatory Myofibroblastic Sarcoma With SQSTM1::ALK Fusion.
Havva Gokce Terzioglu, Phillip McMullen, Güliz A Barkan
✦ AI-curated · Sources linked
Case in brief
A 58-year-old woman presented with cough and shortness of breath, leading to the discovery of a right lung mass. Transbronchial needle aspiration revealed spindle cells in a lymphoplasmacytic background, raising suspicion for an inflammatory myofibroblastic tumor. Lobectomy confirmed epithelioid inflammatory myofibroblastic sarcoma (EIMS) with marked atypia and necrosis. Molecular testing identified an SQSTM1::ALK fusion. The patient later developed metastatic disease with limited response to ALK inhibitor therapy.
What made this case unusual
The identification of an SQSTM1::ALK fusion in a primary pulmonary epithelioid inflammatory myofibroblastic sarcoma is noteworthy, expanding the molecular spectrum of this rare tumor.
Diagnostic / clinical pearl
Clinicians should be aware that cytologic diagnosis of epithelioid inflammatory myofibroblastic sarcoma can be challenging, necessitating a combination of cytomorphology, immunohistochemistry, and molecular testing for accurate identification.
Why it matters
This case emphasizes the importance of recognizing atypical presentations and molecular characteristics in rare tumors, which can significantly impact diagnosis and treatment strategies.