title: Diffuse-type tenosynovial giant cell tumor with t(1;17)(p13;p13) and trisomy 5.
abstract: Diffuse-type tenosynovial giant cell tumor (TSGCT) is a locally aggressive neoplasm that primarily affects the synovium and tendon sheath in young adults. Rearrangement of chromosome band 1p13 is now considered a characteristic genetic feature of TSGCT, with the most frequent chromosomal alteration t(1;2)(p13;q37). Here, we describe a unique cytogenetic finding of diffuse-type TSGCT arising in the ankle of an 18-year-old woman. Magnetic resonance imaging demonstrated an ill-defined juxta-articular mass with decreased signal intensity on both T1- and T2-weighted images. Contrast-enhanced T1-weighted images showed intense enhancement of the mass. Open complete resection was performed. Histologically, the tumor was composed of mononuclear cells admixed with multi-nucleated osteoclast-like giant cells, foam cells, siderophages and inflammatory cells. Cytogenetic analysis revealed a reciprocal translocation involving chromosomes 1 and 17, concomitant with a few other numerical and structural alterations. In addition, trisomy 5 as the sole anomaly was identified in two metaphase cells. To the best of our knowledge, this is the first report of this neoplasm with t(1;17)(p13;p13).
authors.affiliation: Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan jnishio@cis.fukuoka-u.ac.jp.
authors.forename: Jun
authors.initials: J
authors.lastname: Nishio
authors.affiliation: Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kamachi
authors.affiliation: Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Iwasaki
authors.affiliation: Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Naito
mesh_terms: D000293:Adolescent; D000843:Ankle Joint / Q000473:pathology; D001706:Biopsy; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005870:Giant Cell Tumors / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging; D013584:Sarcoma, Synovial / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D014178:Translocation, Genetic; D016896:Treatment Outcome; D014314:Trisomy
keywords: 17p13; 1p13; CSF1; Tenosynovial giant cell tumor; cytogenetics; trisomy 5