摘要目的 探讨Oilier病及其软骨肉瘤变的临床表现、病理特征、诊断及鉴别诊断.方法 19例Ollier病及对照组8例单纯性多发性内生性软骨瘤均行X线、CT或MRI检查.对手术切除标本行常规HE染色,显微镜下观察.结果 19例Ollier病患者年龄5～66岁,平均20岁,男12例,女7例.Ollier病位于手足部短管状骨的病变常伴有骨皮质膨胀、变薄甚至消失,形成仅有骨膜纤维组织包裹的软骨性肿瘤和指趾骨畸形.位于长骨的病变影像学检查常可见从干骺端向骨干延伸的柱状影,并伴有长骨的弯曲、短缩畸形.镜下观察手足部短管状骨的病灶软骨细胞较丰富,多双核细胞,核较大伴轻度不典型性;长骨有髓内多中心性生长倾向,分叶状,可见"骨包软骨"和"软骨化骨"现象.6例发生肉瘤变,均为高分化软骨肉瘤.结论 Ollier病异型增生的软骨可以呈现高分化软骨肉瘤的细胞学改变,因此与高分化软骨肉瘤的鉴别较困难,鉴别的主要依据是浸润而不是细胞学异型性.应注意其所继发的软骨肉瘤与普通软骨肉瘤在临床表现、影像检查和病理组织特征上都有一定差异.

abstractsObjective To explore the clinicopathologie features of Ollier' s disease, its chondrosarcomatous transformation and related differential diagnoses. Methods A total of 19 cases of Ollier's disease and 8 control cases of pure multiple enchondroma were investigated by imaging studies including X-ray, CT or MRI, and hematoxylin and eosin stain. Results Among 19 cases of Ollier's disease, 12 were men and 7 were women with a mean age of 20 years (range, 5-66 years). Ollier's disease involving short tubular bones of extremity were lyric defects with bony expansion, thinning or disappearance of the overlying cortex surrounded by periosteal fibrous tissues. When occurring in the long bones, the disease showed radiolucent columns of dysplastic cartilage that extended from the metaphysis to diaphyseal and created bowing deformation and limb asymmetry. Microscopically, the cartilage present in the small bones of the hands and feet tended to be more hypercellular with more aboundant enlarged or binucleated nuclei. The lesion in long bones appeared multicentric, surrounding with a thin rim of bone and calcification. Six cases of Ollier's disease had developed secondary low-grade chondrosarcoma. Conclusions Low-grade chondrosarcomatous transformation can occur in dysplastic cartilage of Ollier's disease. The diagnosis of such sarcomatous transformation should be determined by invasion, but not atypicality of the cartilagenous cells. There are certain differences between the secondary chondrosarcoma of Ollier's disease and conventional chondrosarcoma on clinical, radiographical and pathological grounds.