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Skeletal Radiol. 2013 Oct;42(10):1475-9. doi: 10.1007/s00256-013-1641-4. Epub 2013 May 19.

Intramuscular myxoma of the buttock mimicking low-grade fibromyxoid sarcoma: diagnostic usefulness of MUC4 expression.

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Department of Orthopedic Surgery, Faculty of Medicine, Tottori University, 36-1 Nishi-machi, Yonago, Tottori 683-8504, Japan.


Intramuscular myxoma (IM) is a benign intramuscular neoplasm composed of fibroblasts and abundant myxoid stroma. Some malignant soft tissue tumors can undergo myxomatous degeneration, which makes it difficult to distinguish them from IM. We describe a case of IM of the buttock region mimicking low-grade fibromyxoid sarcoma. The tumor appeared as a well-defined ovoid mass with a cystic lesion on MRI images, and mild uptake on PET images was seen. This was originally misdiagnosed as low-grade fibromyxoid sarcoma (LGFMS) after core-needle biopsy. The mass was excised en bloc and sent for histology. The surgical specimen showed the features of LGFMS with the same characteristics as those mentioned in the previous biopsy report. After surgery, MUC4 expression, a highly sensitive and specific immunohistochemical marker for LGFMS, and FUS gene rearrangement by FISH was not detected upon re-examination; therefore, a conclusive diagnosis of IM was made. The patient had no local recurrence at the 3-year follow-up. Our case suggests that IM with mild FDG uptake is frequently confused with other low-grade malignant myxoid tumors. In addition, absence of MUC4 expression is the definitive key to distinguish IM from LGFMS.

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