Brandal Petter, Bjerkehagen Bodil, Heim Sverre
Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway.
Neoplasia. 2004 Sep-Oct;6(5):578-83. doi: 10.1593/neo.04202.
Tenosynovial giant cell tumor (TSGCT) is a disease of disputed etiology and pathogenesis. Some investigations indicate a neoplastic origin of the tumors; others indicate that they are polyclonal and inflammatory. The cytogenetic and molecular genetic features of TSGCTs are largely unknown, as only some 20 localized and 30 diffuse tumors with cytogenetic aberrations have been reported. The most common karyotypic aberrations have been trisomy for chromosomes 5 and 7 and translocations involving chromosomal area 1p11-13. We decided to screen the genomes of TSGCTs by comparative genomic hybridization (CGH) to perform interphase fluorescence in situ hybridization (IP-FISH), looking for numerical aberrations of chromosomes 1, 5, and 7, and to analyze the tumors for microsatellite instability. Except for two diffuse TSGCTs that came fresh to us, and which, by karyotyping, exhibited t(1;22)(p13;q12) and a t(1;1)(q21;p11) and +7, respectively, all studies had to be performed on formalin-fixed, paraffin-embedded material. DNA was extracted from 51 localized and nine diffuse TSGCTs. CGH was successful for 24 tumors, but none of them showed copy number changes. The IP-FISH studies showed trisomy 7 in 56% of the tumors (15/27), whereas chromosomes 1 and 5 seemed to be disomic in all TSGCTs. All informative tumors were wild-type by microsatellite instability analysis.
腱鞘巨细胞瘤（TSGCT）是一种病因和发病机制存在争议的疾病。一些研究表明肿瘤起源于肿瘤性；另一些研究则表明它们是多克隆性且具有炎症性。TSGCT的细胞遗传学和分子遗传学特征在很大程度上尚不清楚，因为仅报道了约20例局部性和30例弥漫性伴有细胞遗传学异常的肿瘤。最常见的核型异常是5号和7号染色体三体以及涉及染色体区域1p11 - 13的易位。我们决定通过比较基因组杂交（CGH）对TSGCT的基因组进行筛查，以进行间期荧光原位杂交（IP - FISH），寻找1号、5号和7号染色体的数目异常，并分析肿瘤的微卫星不稳定性。除了两个新鲜送来的弥漫性TSGCT，通过核型分析分别显示t(1;22)(p13;q12)、t(1;1)(q21;p11)和 +7外，所有研究均在福尔马林固定、石蜡包埋的材料上进行。从51例局部性和9例弥漫性TSGCT中提取了DNA。24例肿瘤的CGH检测成功，但均未显示拷贝数变化。IP - FISH研究显示56%的肿瘤（15/27）存在7号染色体三体，而所有TSGCT中1号和5号染色体似乎都是二体。通过微卫星不稳定性分析所有信息丰富的肿瘤均为野生型。
