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In Vivo. 2014 Sep-Oct;28(5):949-52.

Diffuse-type tenosynovial giant cell tumor with t(1;17)(p13;p13) and trisomy 5.

Author information

1
Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan jnishio@cis.fukuoka-u.ac.jp.
2
Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
3
Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.

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).

KEYWORDS:

17p13; 1p13; CSF1; Tenosynovial giant cell tumor; cytogenetics; trisomy 5

PMID:
25189912
[Indexed for MEDLINE]

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