Challenging differential diagnosis, Rare disease
Deepak Donthi, Preeti Malik, Karyn L. Prenshaw, Heng Hong
Department of Pathology and Laboratory Medicine, Vidant Medical Center/East Carolina University, Greenville, NC, USA
Am J Case Rep 2020; 21:e925683
Available online: 2020-07-23
Undifferentiated small blue round cell sarcomas with CIC-DUX4 translocation differ morphologically and in clinical outcomes from other types of sarcoma. Although classified by the World Health Organization as undifferentiated sarcomas, it is unclear whether these tumors are variants of Ewing’s sarcoma or a distinct entity. This report describes a round cell sarcoma with CIC-DUX4 translocation that presented clinically as a phlegmon.
CASE REPORT: A 31-year-old African American man presented with a mass in the right upper abdominal quadrant. Examination at a local hospital suggested an intra-abdominal abscess, and incision and drainage were performed. One week later, he returned with increased pain and bloody drainage from the incision site. Computed tomography showed a complex solid-cystic area measuring 7.8 cm suggesting a large phlegmon/abscess or neoplasm. Histologically, the sarcomatous malignancy was cellular, multinodular, and necrotic, with cells having round-ovoid to spindled nuclei and variable amounts of pale cytoplasm. Immunohistochemically, the mass was focally positive for CD99, but much less positive than an Ewing sarcoma. The mass also showed diffuse nuclear positivity for WT-1 and ETV4, but was negative for desmin. Fluorescence in-situ hybridization showed positivity for CIC-DUX4 gene fusion, resulting in a final diagnosis of round cell sarcoma with CIC-DUX4 translocation. The patient has completed 14 cycles of chemotherapy with no evidence of metastasis or local recurrence.
CONCLUSIONS: A round cell sarcoma with CIC-DUX4 translocation can present clinically as a phlegmon with pleomorphic morphology. Early tumor identification by molecular analysis and early initiation of treatment can improve patient prognosis.
Keywords: Mutation, Neoplasms, Connective and Soft Tissue, Sarcoma, Ewing, In Situ Hybridization, Fluorescence