CTICasesCIC-DUX4 Translocation-Positive Undifferentiated Small Round Cell Sarcoma Mimicking Infection
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Imaging findings
Initial chest radiographs and CT from a young female demonstrate extensive pulmonary abscesses and empyema requiring surgical drainage, with cultures growing Fusobacterium necrophorum. Follow-up imaging reveals rapidly progressive, large mediastinal, right hilar, and chest wall masses that invade and severely narrow the central airways. PET-CT shows extremely high FDG avidity of the masses. Biopsy of these masses ultimately diagnosed an undifferentiated small round cell sarcoma positive for a CIC-DUX4 gene translocation.
Key takeaways
Small round cell tumors, including Ewing sarcoma family tumors and atypical variants like CIC-rearranged sarcomas, are highly aggressive malignant neoplasms that can present as rapidly growing mediastinal or chest wall masses. This case illustrates a rare presentation where the tumor was initially masked by or misdiagnosed as an active, severe Fusobacterium infection, emphasizing the need for close follow-up and biopsy of persistent or progressive tissue masses following infection drainage.
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