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Distal Femoral Non-Epiphyseal Cortical Chondroblastoma Confirmed with H3F3B p. Lys36Met Mutation
Fetal and Pediatric Pathology ( IF 0.7 ) Pub Date : 2022-09-01 , DOI: 10.1080/15513815.2022.2116618
Haiyan Gu 1 , Lingling Sun 1 , Jiufa Cui 2 , Lan Yu 2 , Jigang Wang 1
Affiliation  

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.



中文翻译:

用 H3F3B p. 证实的股骨远端非骨骺皮质软骨母细胞瘤。Lys36Met突变

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。

更新日期:2022-09-01
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