[CANCER RESEARCH54, 3986-3987, August 1, 1994) Advances in Brief Cytogenetic Characterization of Tenosynovial Giant Cell Tumors (Nodular Tenosynovitis)' Paola Dal Cm, Raf Sciot, Ignace Samson, Luc De Smet, Ivo De Wever, Boudewijn Van Damme, and Herman Van Den Berghe2 The Centerfor Human Genetics [P. D. C., H. V. D. B.], and Departments ofPathology (R. S., B. V. D.], Orthopedic Surgery [I. S., L D. S.], and Oncologic Surgery [I. D. W.], University ofLeuven@Herestraat 49, 3000Leuven, Belgium , . @ •@‘.:“.tô-'@t.@j;' .- @ . @ V @- •@.#@*s ‘,@ • @-‘‘@ @ @ @:‘ @ •@a.• lb• P4@ @‘@- . @ S • @ . @,‘1 @ ••a • . , . @ a t @:“@ I I Sa't' @ \ @.qi. •_@,., ,@ - . ,, @ ‘a @ @— @ @5@ I@. @‘@“_.‘ —-, @ - t ,@‘ h1Ip_'@f,! t @ r @ • a@',@''@ @&a @ )--- a. s--@@. @ p @ .d, @ ‘I * ‘@ @ @, •@@c•'@p'@ -% @ . “ @ ‘ . ‘a%@ •@?‘(‘,@U@ @ %@. @ ‘I .. ,t 4 @ @ @1 @ !@ @. @ Fig. 1. Localized form of tenosynovial giant cell tumor characterized by roundeë@ mononuclear cells (arrowhead) intermingled with osteoclast-like giant cells (large or row) and lymphocytes (small arrows). iJ@ 2P$ @1 3)( @ Abstract Chromosome investigation in six localized forms of tenosynovial giant cell tumors, also known as nodular tenosynovitis, revealed an identical translocationbetweenchromosomes1and2, t(1;2)(pll;q35-.36)inthree tumors, a variant translocation t(1;5)(pll;q22) in a fourth case, and a t(2;16)(q33;q24) in a fifth case. One case showed a normal karyotype. Although morphologically rather uniform, these benign tumors appear to be cytogenetically heterogeneous, but the chromosome changes seem to clusterin 2 regions,ipli and 16q24. Introduction TGCF3 are the most common tumors of synovial tissue and have been divided into localized and diffuse forms, depending on their growth characteristics (1). The localized type, often referred to as nodular tenosynovitis, primarily affects the fingers and arises from the synovium of the tendon sheath or interphalangealjoint. It is a common lesion that may occur at any age but usually appears in young and middle-aged persons, more frequently in women than in men. The lesion develops gradually over a long period, often retains the same size for several years and has a preferential location on the flexor surface. TOCTs are benign lesions that, nonetheless, possess a capac ity for local recurrence. Their etiology is still controversial (1). Cytogenetic investigations in TGCTs are scarce. Abnormal karyo types have been reported in two cases of the localized type TOO' (2). The same investigators also reported cytogenetic findings in pig mented villonodular synovitis, the diffuse form ofTGCT (3, 4). Albeit histologically similar to the localized form, pigmented villonodular synovitis is rather uncommon and usually appears as a poorly con fined soft tissue mass in areas adjacent to large weight-bearing joints (1). In this report, we describe the finding of a consistently occurring chromosome abnormality, t(1;2)(pll;q35—36), in three nodular teno synovitis tumors and a variant translocation, t(1;5)(pll;q22), in a fourth tumor. Our fmdings and the data from the literature strongly suggest the involvement of region lpl 1—p13in the localized and diffuse forms of TGCF. Materials and Methods For each tumor, a sample was obtained at the time of surgery and processed for short-term culturing and cytogenetic analysis, according to proceduresdescribed previously (5, 6). Partof the same sample was fixed Received 6/6/94; accepted 6/15/94. The costs of publicationof this articlewere defrayedin partby the paymentof page charges. This article must therefore be hereby marked advertisement in accordance with 18 U.S.C. Section 1734 solely to indicatethis fact. 1 This text presents research results of the Belgian Program on Interuniversity Poles of Attraction initiated by the Belgian State, Prime Minister's Office, Science Policy Pro gramming.The scientific responsibilityis assumedby its authors. 2 To whom requests for reprints should be addressed. 3 The abbreviation used is: TGCF, tenosynovial giant cell tumors. 4fl H Fig. 2. 0-banded partial karyotype showing an identical translocation between chro mosomes 1 and 2, t(1;2)(jil 1;q35—36),in cases 1, 2, and 3 and a variant translocation, t(1;5)(jill;q22), in case 4. 3986 on July 8, 2015. © 1994 American Association for Cancer Research. cancerres.aacrjournals.org Downloaded from