ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
Histological and immunohistochemical features and genetic alterations in the malignant progression of giant cell tumor of bone: a possible association with TP53 mutation and loss of H3K27 trimethylation.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 28 citations in OpenAlex.
- Disappearance of histone H3F3A mutation in metastatic giant cell tumor of bone during long term follow up.Discover oncology · 2026Article
- Malignant Transformation of Musculoskeletal Lesions with Imaging-Pathology Correlation-Part 1: Bone Lesions.Diagnostics (Basel, Switzerland) · 2025Review
- Reduced 5-hydroxymethylcytosine due to TET2 downregulation is associated with chondrosarcoma progression.Scientific reports · 2025Article
- Molecular pathological insights into tumorigenesis and progression of giant cell tumor of bone.Journal of bone oncology · 2025Review
- Giant cell tumor of distal radius: En bloc resection with allograft reconstruction: A case report.Clinical case reports · 2024Article
- Current Concepts in the Treatment of Giant Cell Tumor of Bone: An Update.Current oncology (Toronto, Ont.) · 2024Review
- Giant Cell Tumor of Mandible : A Case Report.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- Genetic characterization of a novel organoid from human malignant giant-cell tumor.Journal of bone oncology · 2023Article
- Genomic profiling and prognostic factors of H3 K27M-mutant spinal cord diffuse glioma.Brain pathology (Zurich, Switzerland) · 2023Article
- Blue lacy matrix in giant cell tumour of bone with or without denosumab therapy.Virchows Archiv : an international journal of pathology · 2023Article
- Prognostic value of nuclear morphometry in myxoid liposarcoma.Cancer science · 2023Article
- In situ sequence-specific visualization of single methylated cytosine on tissue sections using ICON probe and rolling-circle amplification.Histochemistry and cell biology · 2023Article
- Giant cell tumor of bone: An update, including spectrum of pathological features, pathogenesis, molecular profile and the differential diagnoses.Histology and histopathology · 2023Review
- Nanomaterial-assisted CRISPR gene-engineering - A hallmark for triple-negative breast cancer therapeutics advancement.Materials today. Bio · 2022Review
- Clinicopathological and histological analysis of secondary malignant giant cell tumors of bone without radiotherapy.Oncology letters · 2022Article
- A Multiparametric Method Based on Clinical and CT-Based Radiomics to Predict the Expression of p53 and VEGF in Patients With Spinal Giant Cell Tumor of Bone.Frontiers in oncology · 2022Article
- Clinical genomic profiling of malignant giant cell tumor of bone: A retrospective analysis using a real‑world database.Medicine internationalArticle
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19 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
In rare cases, giant cell tumor of bone (GCTB) can undergo primary or secondary malignant transformation to malignant giant cell tumor of bone (MGCTB), but the details of the molecular alterations are still unclear. The present study aimed to elucidate the clinicopathologic and molecular features of MGCTBs based on immunohistochemistry, fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) of nine MGCTBs (five primary and four secondary). Seven (78%) of 9 MGCTBs were immunohistochemically positive for H3.3 G34W. In two (22%) patients, although GCTB components were focally or diffusely positive for H3.3 G34W, their malignant components were entirely negative for H3.3 G34W, which was associated with heterozygous loss of H3F3A by FISH. NGS on four MGCTBs revealed pathogenic mutations in TP53 (n = 3), EZH2 (n = 1) and several other genes. Immunohistochemical analysis of the nine MGCTBs confirmed the p53 nuclear accumulation (n = 5) and loss of H3K27me3 expression (n = 3) and showed that they were mutually exclusive. In addition, four (80%) of five cases of pleomorphic or epithelioid cell-predominant MGCTBs were positive for p53, while three (75%) of four cases of spindle cell-predominant MGCTBs were negative for trimethylation at lysine 27 of histone 3 (H3K27me3). The results suggested that p53 alteration and dysfunction of histone methylation as evidenced by H3K27me3 loss may play an important role in the malignant progression of GCTB, and might contribute to the phenotype-genotype correlation in MGCTB. The combined histologic, immunohistochemical and molecular information may be helpful in part for the diagnosis of challenging cases.
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