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Background Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor that has a tendency to grow in the deep soft tissue of the trunk and extremities. Despite its benign appearance, the tumor has a high recurrence rate and metastatic potential. LGFMS in the perineal space is rare, and only a few cases have been reported. We present the first case of LGFMS to be located at the external anal sphincter. Case presentation A 27-year-old male patient admitted to our Surgical Department with perianal pain and swollen for a year. The digital rectal examination revealed a perianal mass. Oral metronidazole and analgesia were prescribed on suspicion of perianal abscess failed to alleviate the symptom; hence, the patient was scheduled for surgery. Intraoperative diagnosis revealed an encapsulated tumor in the external anal sphincter that extended from the perianal region orally to the pararectal space. The results of immunohistochemistry (MUC4 staining) and FUS gene rearrangement by fluorescence in situ hybridization confirmed the diagnosis of LGFMS. Conclusions This case is unique in terms of the location of the rare soft tissue tumor. Although LGFMS is considered low grade, its unpredictable behavior necessitates a long-term follow-up.

Low-grade fibromyxoid sarcoma is a rare, slow growing and deceptively benign-appearing neoplasm. It is presently diagnosed on the basis of histopathology (typical fibro-myxoid appearance), immunohistochemistry (vimentin staining) and cytogenetics (chimeric FUS/CREB3L2 gene produced by t(7;16)(q33;p11)). This tumour should be differentiated from other resembling tumours like myxofibrosarcoma, sclerosing epitheloid fibrosarcoma, desmoid fibromatosis and others. It has the potential for local recurrence and late metastasis, if not treated adequately. Although surgical excision is the only hope for treatment, reporting of details of surgical management have often been neglected for this primarily pathological entity. We report a case of a 30-year female who had a perineal mass which was managed by wide surgical excision. It was diagnosed as low-grade fibromyxoid sarcoma on the basis of histopathology and immunohistochemistry. This extremely rare presentation is, thus, discussed in context of challenging nature of its surgical excision. Patient is in follow-up and has no recurrence even after 5 years.