Bridge J A, Dembinski A, DeBoer J, Travis J, Neff J R
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha.
Cancer. 1994 Mar 15;73(6):1746-52. doi: 10.1002/1097-0142(19940315)73:6<1746::aid-cncr2820730632>3.0.co;2-w.
The pathogenesis of osteofibrous dysplasia, a rare fibroosseous lesion occurring almost exclusively in the tibia of children younger than 10 years of age, is not known. One theory is that osteofibrous dysplasia results from excessive resorption of bone with fibrous repair of the defect. Alternatively, osteofibrous dysplasia has been considered a congenital lesion or a variant of fibrous dysplasia. It has been hypothesized that osteofibrous dysplasia is a secondary reactive process to adamantinoma. Cytogenetic analysis is one form of investigation that has been instrumental in determining the origin of many disorders.
Short-term cultures of two separate osteofibrous dysplasia specimens (approximately 1 year apart) from the tibia of an 11-year-old boy and 2 separate specimens (approximately 2 years apart) from the tibia of a 16-year-old boy were cytogenetically examined using standard procedures. Additionally, fluorescence in situ hybridization (FISH) studies were performed on uncultured cells of both specimens of the first patient using an alpha-satellite probe for chromosome 12.
Cytogenetic and FISH analysis revealed trisomy 12 in both specimens of the first patient. Trisomy for chromosomes 7, 8, and 22 was seen in both specimens of the second patient.
Osteofibrous dysplasia has not previously been subjected to cytogenetic analysis. Trisomy 7 and 12, however, have been reported in a clonally aberrant adamantinoma, potentially providing further support for a relationship between these two lesions. Most importantly, these findings demonstrate a clonal and possibly neoplastic origin for osteofibrous dysplasia of long bone.
骨纤维结构不良是一种罕见的纤维-骨病变，几乎仅发生于10岁以下儿童的胫骨，其发病机制尚不清楚。一种理论认为，骨纤维结构不良是由于骨过度吸收并伴有缺损的纤维性修复所致。另一种观点认为，骨纤维结构不良是一种先天性病变或纤维结构不良的一种变体。有人推测，骨纤维结构不良是对成釉细胞瘤的一种继发性反应过程。细胞遗传学分析是一种有助于确定许多疾病起源的研究形式。
对一名11岁男孩胫骨的两份骨纤维结构不良标本（间隔约1年）以及一名16岁男孩胫骨的两份标本（间隔约2年）进行短期培养，并采用标准程序进行细胞遗传学检查。此外，使用12号染色体的α-卫星探针，对第一名患者两份标本的未培养细胞进行荧光原位杂交（FISH）研究。
细胞遗传学和FISH分析显示，第一名患者的两份标本均存在12号染色体三体。第二名患者的两份标本均出现7、8和22号染色体三体。
骨纤维结构不良此前尚未进行细胞遗传学分析。然而，在克隆性异常的成釉细胞瘤中曾报告过7号和12号染色体三体，这可能为这两种病变之间的关系提供进一步支持。最重要的是，这些发现表明长骨骨纤维结构不良具有克隆性且可能起源于肿瘤。
