Shizuhide Nakayama1, Jun Nishio2, Shunjiro Nagao1, Mikiko Aoki3, Kazuki Nabeshima4, Takuaki Yamamoto1. 1. Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. 2. Section of Orthopaedic Surgery, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan. 3. Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. 4. Department of Pathology, Fukuoka Tokushukai Hospital, Fukuoka, Japan.
Abstract
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. Copyright 2022, International Institute of Anticancer Research.
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. Copyright 2022, International Institute of Anticancer Research.
Authors: Yuesheng Jin; Emely Möller; Karolin H Nord; Nils Mandahl; Fredrik Vult Von Steyern; Henryk A Domanski; Adrian Mariño-Enríquez; Linda Magnusson; Jenny Nilsson; Raf Sciot; Christopher D M Fletcher; Maria Debiec-Rychter; Fredrik Mertens Journal: Genes Chromosomes Cancer Date: 2012-02-15 Impact factor: 5.006
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