ABSTRACT

Background: Chondroblastoma is a primary bone tumor typically arising from the intramedullary space of the epiphysis or epimetaphysis. A non-epiphyseal chondroblastoma is uncommon. Case report: An 11-year-old girl presented with an eccentric cortical osteolytic lesion in the distal femur metaphysis. The typical morphology, diffuse H3.3 K36M immunohistochemical expression and H3F3B point mutation (c. 110A > T) unequivocally supported the diagnosis of chondroblastoma. Discussion: We described a non-epiphyseal cortical-based chondroblastoma involving the distal femur harboring the typical H3F3B mutation. Non-epiphyseal chondroblastoma may harbor the H3F3B mutation.

摘要

背景：软骨母细胞瘤是一种原发性骨肿瘤，通常起源于骨骺或骨骺的髓内间隙。非骨骺软骨母细胞瘤并不常见。病例报告：一名 11 岁女孩在股骨远端干骺端出现偏心皮质溶骨性病变。典型的形态学、弥漫性 H3.3 K36M 免疫组织化学表达和H3F3B点突变 ( c. 110A > T ) 明确支持软骨母细胞瘤的诊断。讨论：我们描述了一种非骨骺皮质软骨母细胞瘤，涉及股骨远端，具有典型的H3F3B突变。非骨骺软骨母细胞瘤可能携带H3F3B突变。