Background/aim: Angiofibroma of soft tissue (AFST) is a rare benign soft-tissue tumor that most frequently occurs in the lower extremities. It has a characteristic genetic feature with a balanced chromosomal translocation t(5;8)(p15;q13), resulting in a fusion of aryl hydrocarbon receptor repressor (AHRR) and nuclear receptor coactivator 2 (NCOA2).
Case report: A 55-year-old woman presented with a 2-year history of left knee pain and recently noticed the development of a palpable mass. Magnetic resonance imaging exhibited a well-defined intra-articular mass with iso-signal intensity relative to skeletal muscle on T1-weighted sequences, heterogeneous high signal intensity on T2-weighted sequences and avid, diffuse enhancement on contrast-enhanced fat-suppressed T1-weighted sequences. After an ultrasound-guided core needle biopsy, the lesion was successfully treated by arthroscopically-assisted complete excision. Histologically, the tumor was composed of uniform bland spindle cells in a myxoid to collagenous stroma with a prominent vascular network. Immunohistochemically, the spindle cells were diffusely positive for CD163 and CD68 and focally positive for estrogen receptor. Moreover, AHRR-NCOA2 fusion gene was detected by reverse transcription-polymerase chain reaction. There has been no clinical evidence of local recurrence at 1-year follow-up.
Conclusion: This is the first report of the detection of an AHRR-NCOA2 gene fusion associated with intra-articular AFST. AFST should be included in the extended differential diagnosis of an intra-articular soft-tissue mass, particularly if the mass is vascular.
Keywords: AHRR; Angiofibroma; MRI; NCOA2; arthroscopy; intra-articular; knee.
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