Akira Maekawa, Tomoya Matsunobu, Akira Nabeshima, Suguru Fukushima, Kosuke Makihara, Masanori Hisaoka, Yukihide Iwamoto
Department of Orthopedic Surgery, Kyushu Rosai Hospital, Kitakyushu, Fukuoka, Japan
Am J Case Rep 2021; 22:e929349 :: DOI: 10.12659/AJCR.929349
Available online: 2021-01-20, In Press, Corrected Proof
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CIC-rearranged sarcoma (CRS) is a recently described subset of undifferentiated small-round-cell sarcomas of bone and soft tissue. DUX4 is the most common gene involved in CRS. CRS usually presents in the soft tissue of the trunk and extremities, and is recognized as being clinically aggressive, with poor prognosis. Our case highlights an unusual presentation of CRS with cardiac tamponade.
CASE REPORT A 48-year-old man presented with hypotension caused by hemorrhagic cardiac tamponade. ¹⁸F-fluorodeoxyglucose-positron emission tomography showed increased uptake in multiple lesions, including lesions in the left proximal humerus and several lymph nodes. Biopsy specimens of the humerus revealed proliferation of round-shaped cells. In addition, CIC-DUX4 gene rearrangement was detected by polymerase chain reaction and direct sequencing, leading to a diagnosis of cardiac tamponade caused by CRS. Although the patient received systemic chemotherapy as well as radiotherapy to the mediastinal lesion and left humerus, he died of progressive disease 12 months after diagnosis.
CONCLUSIONS Because CRS is a recently proposed entity that is distinct from Ewing sarcoma, the clinical presentation and outcome of CRS has not been well documented in the literature. This is the first case report of CRS presenting as cardiac tamponade. Although cardiac tamponade due to metastatic sarcoma is extremely rare, CRS can be included in the differential diagnosis.
Keywords: Cardiac Tamponade; Sarcoma; Translocation, Genetic