1. Giant Cell Tumor of Bone in Patients under 16 Years Old: A Single-Institution Case Series
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Marco Manfrini, Alessandro Gasbarrini, Giovanna Magagnoli, Francesca Ambrosi, Ilaria Chiaramonte, Marco Gambarotti, Stefania Benini, Tommaso Frisoni, Alberto Righi, Ambrosi, Francesca, Righi, Alberto, Benini, Stefania, Magagnoli, Giovanna, Chiaramonte, Ilaria, Manfrini, Marco, Gasbarrini, Alessandro, Frisoni, Tommaso, and Gambarotti, Marco
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0301 basic medicine ,Cancer Research ,Pathology ,medicine.medical_specialty ,bone ,Article ,03 medical and health sciences ,0302 clinical medicine ,H3F3A gene ,Medicine ,In patient ,Giant Cell Tumors ,Single institution ,RC254-282 ,giant cell tumor ,business.industry ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,medicine.disease ,Molecular analysis ,030104 developmental biology ,pediatric ,Oncology ,030220 oncology & carcinogenesis ,immunohistochemistry ,Immunohistochemistry ,business ,H3F3A ,Giant-cell tumor of bone - Abstract
Background: Giant cell tumor of bone is a locally aggressive, rarely metastasizing tumor that accounts for about 5% of bone tumors and generally occurs in patients between 20 and 45 years old. A driver mutation in the histone 3.3 (H3.3) gene H3F3A has been identified in as many as 96% of giant cell tumors of bone. The immunohistochemical expression of H3F3A H3.3 G34 expression was found in 97.8% of cases. In the present study, we describe our series of cases of giant cell tumor of bone in pediatric patients <, 16 years old. Methods: All cases of giant cell tumor of bone in pediatric patients <, 16 years old treated in our institute between 1982 and 2018 were reviewed. Immunohistochemistry and/or molecular analysis for H3F3A gene mutations was performed to confirm the diagnosis. A group of aneurysmal bone cysts in patients <, 16 years old was used as a control group. Results: Fifteen cases were retrieved. A pronounced female predominance (93%) was observed. A pure metaphyseal central location occurs in 2 skeletally immature patients. Conclusions: Giant cell tumor of bone should be distinguished from its mimickers due to differences in prognosis and treatment. Immunohistochemical and molecular detection of H3F3A gene mutation represents a reliable diagnostic tool.
- Published
- 2021
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