An extremely rare case of primary malignancy in giant cell tumor of bone, arising in the right femur and harboring H3F3A mutation

Tsukamoto, Yoshitane; Futani, Hiroyuki; Kihara, Takako; Watanabe, Takahiro; Kumanishi, Shunsuke; Matsuo, Shohei; Hirota, Seiichi; Ueda, Takafumi; Yamamoto, Hidetaka; Yoshiya, Shinichi

doi:10.1016/j.prp.2018.06.015

Cited by 5 publications

(3 citation statements)

References 18 publications

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“…Studies have shown that both primary and secondary malignant GCTB share H3.3 G34W mutation and retained mutant protein expression 7,15,16. In our study, on IHC we found strong nuclear immunoexpression in all the 3 cases of malignant GCTB.…”

Section: Discussionsupporting

confidence: 65%

“…Studies have shown that both primary and secondary malignant GCTB share H3.3 G34W mutation and retained mutant protein expression. 7,15,16 In our study, on IHC we found strong nuclear immunoexpression in all the 3 cases of malignant GCTB. However, some studies have shown conflicting results, and they found an absence of H3.3 G34W mutation and protein expression in at least some of the cases showing the secondary malignant transformation.…”

Section: Discussionsupporting

confidence: 65%

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Reliability and Role of Mutation-specific H3F3A (Histone 3-3) G34W Immunohistochemistry to Differentiate Giant Cell Tumor of Bone From its Clinicoradiologic and Histologic Mimics: An Institutional Study

Pasricha¹,

Pruthi²,

Jajodia

et al. 2021

Applied Immunohistochemistry &Amp; Molecular Morphology

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Giant cell tumor of bone (GCTB) is a benign neoplasm, which can sometimes be a diagnostic challenge, especially in small biopsies, due to its histologic benign and malignant mimics. We evaluated the role of H3.3 G34W immunohistochemistry (IHC) antibody in diagnosing GCTB and its role in differentiating it from its close histologic mimics. A total of 120 cases (80 cases of GCTB and 40 cases of histologic mimics) were retrieved and subjected to IHC. Of 80 cases of GCTB, 72 cases showed a positive nuclear immunoexpression, while all 40 cases of histologic mimics of GCTB showed a negative staining for H3.3 G34W IHC. Sensitivity and specificity of this mutation-specific antibody for diagnosis of GCTB was 90% and 100%, respectively, while, the positive predictive value and the negative predictive value were 100% and 83.3%, respectively. A positive expression of H3.3 G34W was seen in all 5 cases of GCTB, postdenosumab therapy, as well as, in all 3 cases of malignant giant cell tumor. The presented study showed that H3.3 G34W mutation-specific IHC is a reliable and specific marker for GCTB and can help distinguish it from the histologic mimics due to distinct therapeutic implications.

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Section: Discussionsupporting

confidence: 65%

Section: Discussionsupporting

confidence: 65%

Reliability and Role of Mutation-specific H3F3A (Histone 3-3) G34W Immunohistochemistry to Differentiate Giant Cell Tumor of Bone From its Clinicoradiologic and Histologic Mimics: An Institutional Study

Pasricha¹,

Pruthi²,

Jajodia

et al. 2021

Applied Immunohistochemistry &Amp; Molecular Morphology

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“…H3.3 p.G34W mutant-specific immunohistochemistry (IHC; clone RM263, commercially available) is a highly sensitive and specific surrogate marker of H3F3A p.G34W mutation in GCTB [56][57][58], being useful for practical diagnosis in primary [58] or recurrent, metastatic, and secondary malignant GCTB [59]. Although denosumab therapy may decrease p.G34W expression [22], evidence shows that spindle cells and cells in and around immature bone in denosumabtreated GCTBs are H3.3 p.G34W-positive by IHC, with H3F3A mutations consistently detected in corresponding samples [56,58,60,61], which may predict relapse risk [55].…”

Section: Tumor Markersmentioning

confidence: 99%

Medical Therapy of Giant Cell Tumor of Bone

Lopes-Brás¹,

Fernandes²,

Casimiro³

et al. 2021

Recent Advances in Bone Tumours and Osteoarthritis

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Giant cell tumor of bone (GCTB) is mostly a benign disease of the bone, although with high local recurrence rate and potential for metastatic spread, namely to the lungs. It is also a locally aggressive tumor, associated with severe morbidity and functional impairment due to bone destruction. Treatment is therefore required and should be offered at an early stage to allow complete resection, minimizing functional sequelae and local recurrence. Surgical resection is the mainstay of treatment, often followed by intralesional adjuvant therapy. GCTB has a particular biology, in which RANKL represents a key factor in tumor pathogenesis, thus making this molecule a valuable therapeutic target. Monthly administration of denosumab, a fully human monoclonal antibody directed against RANKL, has been studied in several clinical trials and shown a high rate of local control with favorable safety profile. In this chapter, current medical management, ongoing studies, and future directions in GCTB will be discussed.

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