Publications by authors named "Caroline Early"
Article Synopsis
- Sclerosing epithelioid fibrosarcoma (SEF) is an extremely rare primary bone tumor, with rare instances showing similarities to low-grade fibromyxoid sarcoma (LGFMS).
- The study describes three confirmed cases in patients aged 16, 26, and 47, located in the femoral head, clavicle, and temporal bone, and emphasizes the diagnostic challenges due to their variable characteristics.
- All tumors showed histological features of both SEF and LGFMS, confirmed by MUC4 positivity and EWSR1 gene rearrangements through advanced genetic testing.
SMARCA4-deficient neoplasms are recently characterized high-grade malignancies associated with a poor prognosis. The SMARCA4 gene encodes BRG1, which is part of the SWI/SNF complex. SMARCA4-deficient neoplasms have an undifferentiated, often rhabdoid morphology, and demonstrate loss of BRG1 nuclear expression on immunohistochemistry.
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