ArticleGenes, chromosomes & cancer2025
The Transcriptomic and Gene Fusion Landscape of Pleomorphic Salivary Gland Adenomas.
Article in Genes, chromosomes & cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Discovery metabolomics and genetic analysis reveal lipid pathway alterations associated with malignant phenotype acquisition in pleomorphic adenoma and a novel NTF3::ITPR2 fusion in carcinoma ex pleomorphic adenoma.Virchows Archiv : an international journal of pathology · 2026Article
- Recent developments in salivary gland pathology after the WHO 2024 classification: new developments in existing entities and evolving new entities.Virchows Archiv : an international journal of pathology · 2026Review
- Targeted molecular profiling uncovers true ceruminous adenomas with HMGA2::WIF1 and ceruminous syringocystadenoma papilliferum with BRAF V600E.Virchows Archiv : an international journal of pathology · 2026Article
- Single-cell transcriptomics reveals cellular evolution underlying pleomorphic adenoma recurrence and malignant transformation.Scientific reports · 2025Article
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8 authors.
Funding
Abstract
Pleomorphic adenoma (PA) is the most common salivary gland tumor. PAs are characterized by chromosomal rearrangements of 8q12 and 12q14-15, leading to gene fusions involving the PLAG1 and HMGA2 oncogenes. Here, we performed the first comprehensive study of the transcriptomic and gene fusion landscape of 38 cytogenetically characterized PAs. RNA-seq identified PLAG1 or HMGA2 fusions in 33/38 cases (87%), of which 15 were novel fusions. Fusions were found also in tumors with normal karyotype, demonstrating that they are generated by cryptic rearrangements. PLAG1 was mainly activated by promoter swapping and HMGA2 by truncation of its 3'-part. RNA-seq revealed upregulation of genes involved in extracellular matrix production, WNT-signaling, and epithelial-mesenchymal transition in PA compared to normal salivary tissue. Principal component analysis identified two PA subclusters characterized by PLAG1- and HMGA2-activation, respectively, that differed in expression of genes involved in the immune system, cell adhesion, and microenvironment remodeling. Moreover, comparative analyses of PA and salivary carcinomas revealed that PA resembles myoepithelial carcinoma. Our study reveals new oncogenic gene fusions and expands our knowledge about the molecular underpinnings of PA.
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