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Somatic mutations of thymic epithelial tumors with myasthenia gravis.
Pardini, Eleonora; Cucchiara, Federico; Palumbo, Sara; Tarrini, Giulia; Di Vita, Alessia; Coppedè, Fabio; Nicolì, Vanessa; Guida, Melania; Maestri, Michelangelo; Ricciardi, Roberta; Aprile, Vittorio; Ambrogi, Marcello C; Barachini, Serena; Lucchi, Marco; Petrini, Iacopo.
Affiliation
  • Pardini E; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Cucchiara F; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Palumbo S; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Tarrini G; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Di Vita A; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Coppedè F; Medical Genetics, Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Nicolì V; Medical Genetics, Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Guida M; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Maestri M; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Ricciardi R; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Aprile V; Thoracic Surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, Pisa, Italy.
  • Ambrogi MC; Thoracic Surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, Pisa, Italy.
  • Barachini S; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Lucchi M; Thoracic Surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, Pisa, Italy.
  • Petrini I; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Front Oncol ; 13: 1224491, 2023.
Article in En | MEDLINE | ID: mdl-37671056
Background: Thymic epithelial tumors are rare malignant neoplasms that are frequently associated with paraneoplastic syndromes, especially myasthenia gravis. GTF2I is an oncogene mutated in a subgroup of thymomas that is reputed to drive their growth. However, for GTF2I wild-type tumors, the relevant mutations remain to be identified. Methods: We performed a meta-analysis and identified 4,208 mutations in 339 patients. We defined a panel of 63 genes frequently mutated in thymic epithelial tumors, which we used to design a custom assay for next-generation sequencing. We sequenced tumor DNA from 67 thymomas of patients with myasthenia gravis who underwent resection in our institution. Results: Among the 67 thymomas, there were 238 mutations, 83 of which were in coding sequences. There were 14 GTF2I mutations in 6 A, 5 AB, 2 B2 thymomas, and one in a thymoma with unspecified histology. No other oncogenes showed recurrent mutations, while sixteen tumor suppressor genes were predicted to be inactivated. Even with a dedicated assay for the identification of specific somatic mutations in thymic epithelial tumors, only GTF2I mutations were found to be significantly recurrent. Conclusion: Our evaluation provides insights into the mutational landscape of thymic epithelial tumors, identifies recurrent mutations in different histotypes, and describes the design and implementation of a custom panel for targeted resequencing. These findings contribute to a better understanding of the genetic basis of thymic epithelial tumors and may have implications for future research and treatment strategies.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Front Oncol Year: 2023 Document type: Article Affiliation country: Italy Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Front Oncol Year: 2023 Document type: Article Affiliation country: Italy Country of publication: Switzerland