ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
Metaplastic thymoma: a distinctive thymic neoplasm characterized by YAP1-MAML2 gene fusions.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 69 citations in OpenAlex.
- Thymic epithelial tumors: what's next?Cancer metastasis reviews · 2026Review
- Thymus-like phenotype in benign lymphoepithelial neoplasms of salivary glands: clinicopathological and molecular characterization and reappraisal of relationship to non-sebaceous lymphadenoma.Virchows Archiv : an international journal of pathology · 2026Article
- A rare case of thymoma with extensive clear cell components: a discussion of its clear cell transformation.Medical molecular morphology · 2026Article
- Genome-wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas.The Journal of pathology · 2026Article
- Primary thymic mucoepidermoid carcinoma with positiveGland surgery · 2026Article
- Combined immunohistochemistry and FISH testing for diagnosing metaplastic thymoma: a case report of misdiagnosis as pulmonary mucinous epidermoid carcinoma.Frontiers in surgery · 2026Article
- Mediastinal epithelial neoplasms with recurrent molecular alterations.Mediastinum (Hong Kong, China) · 2026Review
- Transforming Growth Factor-β1 as a Biomarker of Malignant Behavior and PD-L1 Expression in Thymic Epithelial Tumors.Cancer science · 2026Article
- Mucoepidermoid carcinoma of the thymus: a case report with emphasis on the differential diagnosis.Pathologica · 2025Article
- NovelCancers · 2025Article
- Conundrum of 3N: nasopharyngeal nonkeratinizing non-viral carcinoma-reappraisal of fusions and report of two consecutive cases with unusual molecular findings.Virchows Archiv : an international journal of pathology · 2025Article
- The YAP1-MAML2 fusion drives tumorigenesis and sustains tumor growth.Molecular therapy. Oncology · 2024Article
- Comprehensive Next Generation Sequencing Reveals that Purported Primary Squamous Cell Carcinomas of the Parotid Gland are Genetically Heterogeneous.Head and neck pathology · 2024Article
- Immunohistochemistry for YAP1 N-terminus and C-terminus highlights metaplastic thymoma and high-grade thymic epithelial tumors by different staining patterns.Virchows Archiv : an international journal of pathology · 2024Article
- YAP, TAZ, and Hippo-Dysregulating Fusion Proteins in Cancer.Annual review of cancer biology · 2024Article
- The Molecular Landscape of Thymic Epithelial Tumors: A Comprehensive Review.International journal of molecular sciences · 2024Review
- Recent Advances in the Diagnosis, Pathogenesis, and Management of Myxoinflammatory Fibroblastic Sarcoma.International journal of molecular sciences · 2024Review
- Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions.Genes, chromosomes & cancer · 2024Article
- Metaplastic thymoma in the middle mediastinum: a rare case report and surgical treatment analysis of a 32-year-old female patient.AME case reports · 2024Article
- The Role of Gene Fusions in Thymic Epithelial Tumors.Cancers · 2023Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metaplastic thymomas are rare biphasic thymic tumors that are characteristically well-circumscribed, confined to the thymus, and follow a benign to indolent clinical course. Their relationship to other thymic neoplasms remains unclear, and their molecular characteristics have not been defined. We report for the first time recurrent translocation events in metaplastic thymomas involving the Yes Associated Protein 1 (YAP1) and Mastermind Like Transcriptional Coactivator 2 (MAML2) genes. Eight metaplastic thymomas were retrieved from two institutions' archives over a 21-year period. Paraffin-embedded material from all cases underwent targeted DNA-based hybrid capture next-generation sequencing. Cases showing no somatic alterations subsequently underwent targeted RNA sequencing. Allele-specific real-time polymerase chain reaction was performed to detect GTF2I c.74146970T>A (p.L424H) mutations. All cases showed characteristic histologic features of metaplastic thymoma and demonstrated no local recurrence or distant metastatic disease at 1-22 years of follow-up. Six of eight cases were successfully sequenced, all showing YAP1-MAML2 fusions; in four cases the fusions were detected by DNA sequencing and in two cases by RNA sequencing. Two distinct products were identified: 5' YAP1 exon 1 fused to 3' MAML2 exons 2-5 or 5' YAP1 exons 1-5 fused to 3' MAML2 exons 2-5. All cases underwent allele-specific real-time polymerase chain reaction and demonstrated no GTF2I L424H mutations. Metaplastic thymoma is a distinct, clinically indolent thymic epithelial neoplasm characterized by YAP1-MAML2 fusion and lacking the GTF2I mutations found in Type A and AB thymomas.
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