ArticleCancer genomics & proteomics
Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 (
Article in Cancer genomics & proteomics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 31 citations in OpenAlex.
- Keratin-positive giant cell-rich tumor with HMGA::NCOR2 fusion in a 4-year-old.Skeletal radiology · 2026Article
- Conventional (bone-type) giant cell tumor of the larynx: the first case with proven H3-3A: c.103G >T (p.Gly35Trp) mutation.Virchows Archiv : an international journal of pathology · 2025Article
- The value of morphology: osteoclast-like cells in soft tissue tumours.Pathology oncology research : POR · 2025Review
- Xanthogranulomatous epithelial tumors/keratin-positive giant cell-rich tumors involving the head and neck: report of seven cases and review of the literature.Virchows Archiv : an international journal of pathology · 2024Review
- Review
- Giant Cell Tumor of Soft Tissue: An Updated Review.Journal of clinical medicine · 2024Review
- Giant cell tumor of bone: An update, including spectrum of pathological features, pathogenesis, molecular profile and the differential diagnoses.Histology and histopathology · 2023Review
- Expanding the molecular spectrum of tenosynovial giant cell tumors.Frontiers in oncology · 2022Article
- GermlineCancer genomics & proteomicsArticle
- Fusion of the High-mobility Group AT-Hook 2 (In vivo (Athens, Greece)Article
- An Update on Selected Giant Cell-Rich Tumors of Soft Tissue.Cancer genomics & proteomicsReview
- Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.Cancer genomics & proteomicsReview
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimChimeras involving the high-mobility group AT-hook 2 gene (HMGA2 in 12q14.3) have been found in lipomas and other benign mesenchymal tumors. We report here a fusion of HMGA2 with the nuclear receptor co-repressor 2 gene (NCOR2 in 12q24.31) repeatedly found in tumors of bone and the first cytogenetic investigation of this fusion. MATERIALS AND
methodsSix osteoclastic giant cell-rich tumors were investigated using G-banding, RNA sequencing, reverse transcription polymerase chain reaction, Sanger sequencing, and fluorescence in situ hybridization.
resultsFour tumors had structural chromosomal aberrations of 12q. The pathogenic variant c.103_104GG>AT (p.Gly35Met) in the H3.3 histone A gene was found in a tumor without 12q aberration. In-frame HMGA2-NCOR2 fusion transcripts were found in all tumors. In two cases, the presence of an HMGA2-NCOR2 fusion gene was confirmed by FISH on metaphase spreads.
conclusionOur results demonstrate that a subset of osteoclastic giant cell-rich tumors of bone are characterized by an HMGA2-NCOR2 fusion gene.
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