ArticleGenes, chromosomes & cancer2021
Targeted RNA sequencing in the routine clinical detection of fusion genes in salivary gland tumors.
Article in Genes, chromosomes & cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- 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
- Evolving Concepts in Salivary Duct Carcinoma: A Narrative Review.Oncology and therapy · 2026Review
- Multifocal Benign Metastasizing Pleomorphic Adenoma Presenting as a Lymphoma: An Atypical Clinical Picture Demystified by an Unusual PLAG1 Gene Rearrangement Detected on RNA Next Generation Sequencing.Diagnostic cytopathology · 2026Article
- Atypical adenoid cystic carcinoma of the palate during pregnancy: a case report.Frontiers in oncology · 2026Article
- RNA-seq analysis of wild-type and mutated TBPL1 gene in breast cancer cells lines through CRISPR/Cas9 approach reveals novel molecular signatures.Scientific reports · 2025Article
- Molecular pathology of adenoid cystic carcinoma.Histology and histopathology · 2025Review
- Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.Nature communications · 2025Article
- Analyses of theInternational journal of molecular sciences · 2024Article
- Malignant Salivary Gland Neoplasm of the Tongue Base with EWSR1::BEND2 Fusion: An Unusual Case with Literature Review.Head and neck pathology · 2024Review
- Characterization of MYBL1 Gene in Triple-Negative Breast Cancers and the Genes' Relationship to Alterations Identified at the Chromosome 8q Loci.International journal of molecular sciences · 2024Article
- Molecular landscape of salivary gland malignancies. What is already known?Contemporary oncology (Poznan, Poland) · 2024Review
- Loss of BAP1 Protein Expression by Immunohistochemistry in the Salivary Duct Carcinoma Component of an Intracapsular Carcinoma ex Pleomorphic Adenoma of the Parotid Gland.Head and neck pathology · 2023Article
- Lipomatous mixed tumor of the skin with cystic formation affecting the upper lip: A case report.Experimental and therapeutic medicine · 2022Article
- Article
- Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas.Biomedicines · 2022Review
- PTEN Deregulation Mechanisms in Salivary Gland Carcinomas.Cancer diagnosis & prognosisReview
- Mutational Signatures in Salivary Gland Carcinomas.Cancer diagnosis & prognosisReview
- Molecular testing of cytology specimens: overview of assay selection with focus on lung, salivary gland, and thyroid testing.Journal of the American Society of CytopathologyReview
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Salivary gland tumors represent a diverse group of neoplasms that occasionally pose a diagnostic challenge for pathologists, particularly with limited sampling. Gene fusions, which may reflect genetic drivers, are increasingly recognized in a subset of these neoplasms, and can be leveraged for diagnostic purposes. We performed a retrospective analysis on a cohort of 80 benign and malignant salivary gland tumors, enriched for subtypes known to harbor recurrent fusion events, to validate the diagnostic use of a targeted RNA sequencing assay to detect fusion transcripts. Testing identified fusion genes in 71% (24/34) of pleomorphic adenoma and carcinoma-ex-pleomorphic adenoma, with 56% of cases showing rearrangement of PLAG1 and 15% HMGA2. In addition to confirming known partners for these genes, novel PLAG1 fusion partners were identified, including DSTN, NTF3, and MEG3; CNOT2 was identified as a novel fusion partner for HMGA2. In adenoid cystic carcinoma, 95% of cases (19/20) were positive for a fusion event. MYB was rearranged in 60% (12/20), MYBL1 in 30% (6/20), and NFIB in 5% (1/20); two tumors exhibited novel fusion products, including NFIB-TBPL1 and MYBL1-VCPIP1. Fusion genes were identified in 64% (9/14) of cases of mucoepidermoid carcinoma; MAML2 was confirmed to partner with either CRTC1 (43%) or CRTC3 (21%). One salivary duct carcinoma was found to harbor a novel RAPGEF6-ACSL6 fusion gene. Finally, as anticipated, gene fusions were not detected in any of the five acinic cell carcinomas included in the cohort. In summary, targeted RNA sequencing represents a diagnostically useful ancillary technique for identifying a variety of existing, and novel, fusion transcripts in the classification of salivary gland neoplasms.
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