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经p.Lys36Met突变确诊的股骨远端非骨骺皮质软骨母细胞瘤

Distal Femoral Non-Epiphyseal Cortical Chondroblastoma Confirmed with p. Lys36Met Mutation.

作者信息

Gu Haiyan, Sun Lingling, Cui Jiufa, Yu Lan, Wang Jigang

机构信息

Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, China.

Department of Radiology, The Affiliated Hospital of Qingdao University, Qingdao, China.

出版信息

Fetal Pediatr Pathol. 2023 Apr;42(2):320-326. doi: 10.1080/15513815.2022.2116618. Epub 2022 Sep 1.

Abstract

Chondroblastoma is a primary bone tumor typically arising from the intramedullary space of the epiphysis or epimetaphysis. A non-epiphyseal chondroblastoma is uncommon. 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 point mutation () unequivocally supported the diagnosis of chondroblastoma. We described a non-epiphyseal cortical-based chondroblastoma involving the distal femur harboring the typical mutation. Non-epiphyseal chondroblastoma may harbor the mutation.

摘要

软骨母细胞瘤是一种原发性骨肿瘤,通常起源于骨骺或干骺端的髓腔。非骨骺性软骨母细胞瘤并不常见。一名11岁女孩表现为股骨远端干骺端的偏心性皮质溶骨性病变。典型的形态、弥漫性H3.3 K36M免疫组化表达和点突变明确支持软骨母细胞瘤的诊断。我们描述了一例累及股骨远端的非骨骺性皮质型软骨母细胞瘤,其具有典型的突变。非骨骺性软骨母细胞瘤可能存在突变。

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