Ohjimi Y, Iwasaki H, Ishiguro M, Kaneko Y, Tashiro H, Emoto G, Ogata K, Kikuchi M
Department of Pathology, Fukuoka University School of Medicine, Japan.
Cancer Genet Cytogenet. 1996 Aug;90(1):80-5. doi: 10.1016/0165-4608(96)00064-7.
Pigmented villonodular synovitis (PVNS) is a relatively uncommon benign lesion that is characterized by diffuse synovial proliferation, mainly occurring in knee joints. Cytogenetic reports about this lesion are few and they describe the presence of numerical and structural chromosome aberrations. We obtained PVNS tissue from the left knee joint of a 53-year-old female, and performed cytogenetic analysis. Fluorescence in situ hybridization (FISH) was also performed by using the formalin fixed, paraffin embedded PVNS tissue. Two seemingly unrelated clones were found: the first clone had structural abnormalities of chromosome 1, 3, and 18, and the second one had trisomy 7 as a sole numerical abnormality. FISH using a chromosome 7 specific alpha-satellite DNA probe revealed that interphase nuclei possessed two or three signals. We describe the clonal aberrations found in a case of PVNS. The deleted lesion of the chromosome 1 (1p10-1p31.3) includes the locus of coagulation factor III gene (1p22-p21), and the coagulation factor V (1q21-q25) locus includes another breakpoint that is 1q25. In addition, recurrent structural abnormalities at the short arm of chromosome 1 have been reported. These facts might play some role in the hemorrhagic tendency and histogenesis of these lesions.
色素沉着绒毛结节性滑膜炎（PVNS）是一种相对罕见的良性病变，其特征为弥漫性滑膜增生，主要发生于膝关节。关于该病变的细胞遗传学报告较少，且描述了染色体数目和结构异常的存在。我们从一名53岁女性的左膝关节获取了PVNS组织，并进行了细胞遗传学分析。还使用福尔马林固定、石蜡包埋的PVNS组织进行了荧光原位杂交（FISH）。发现了两个看似不相关的克隆：第一个克隆具有1号、3号和18号染色体的结构异常，第二个克隆唯一的数目异常是7号染色体三体。使用7号染色体特异性α卫星DNA探针进行的FISH显示，间期核具有两个或三个信号。我们描述了在一例PVNS中发现的克隆性异常。1号染色体的缺失区域（1p10 - 1p31.3）包括凝血因子III基因位点（1p22 - p21），而凝血因子V（1q21 - q25）位点包括另一个断点1q25。此外，已有报道1号染色体短臂存在反复出现的结构异常。这些事实可能在这些病变的出血倾向和组织发生中起一定作用。
