Distal Femoral Non-Epiphyseal Cortical Chondroblastoma Confirmed with H3F3B p. Lys36Met Mutation

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.

KEYWORDS:

• Chondroblastoma
• non-epiphysis
• bone cortex
• H3F3B mutation
• pathology
• radiology

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Funding

The author(s) reported there is no funding associated with the work featured in this article.