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H3F3A mutation as a marker of malignant giant cell tumor of the bone: A case report and review of literature

1 Department of Surgical Oncology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
2 Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

Correspondence Address:
Ranganath Ratnagiri,
Department of Surgical Oncology, Room No 404, Fourth Floor, Specialty Block, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 082, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcrt.jcrt_247_21

Giant cell tumor of the bone (GCTB) is a locally aggressive lesion, which characteristically arises from the epimetaphyseal region of long bones. They occur commonly in the third or fourth decade of life with a slight female preponderance. Various lesions such as chondroblastoma, aneurysmal bone cysts, and nonossifying fibromas can mimic the radiologic appearance of giant cell tumors. However, the greatest challenge is to differentiate between a conventional GCTB, a malignancy arising in a giant cell tumor, and osteoclast-rich osteosarcomas. The presence of a histone gene mutation, H3F3A, involving the substitution of glycine 34 has been reported in more than 95% of GCTB. Immunohistochemical (IHC) analysis of the biopsy specimens for H3.3pG34W expression is a surrogate for gene analysis and can be used to establish the presence of GCTB. Our report is the first in Indian literature to report the use of H3.3pG34W IHC in establishing the diagnosis of a primary malignant GCTB.

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