Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion
Abstract Background Clear cell (hemangioblastoma-like) stromal tumor of the lung (CCSTL) is a rare pulmonary neoplasm. Recently, 9 cases of CCSTL harboring the YAP1-TFE3 gene fusion have been described, and it has been suggested that this aberration could be a characteristic feature of this tumor. C...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-01-01
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| Series: | Diagnostic Pathology |
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| Online Access: | https://doi.org/10.1186/s13000-023-01304-0 |
| _version_ | 1811176020643938304 |
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| author | Radek Jakša Ivana Stružinská Michaela Kendall Bártů Stanislav Trča Radoslav Matěj Pavel Dundr |
| author_facet | Radek Jakša Ivana Stružinská Michaela Kendall Bártů Stanislav Trča Radoslav Matěj Pavel Dundr |
| author_sort | Radek Jakša |
| collection | DOAJ |
| description | Abstract Background Clear cell (hemangioblastoma-like) stromal tumor of the lung (CCSTL) is a rare pulmonary neoplasm. Recently, 9 cases of CCSTL harboring the YAP1-TFE3 gene fusion have been described, and it has been suggested that this aberration could be a characteristic feature of this tumor. Case presentation We here report another case of CCSTL in a 57-year-old male, which presented as a solitary lung nodule 45 mm in the greatest dimension. Microscopically, the tumor consisted of epithelioid to spindled cells with mild-to-moderate nuclear atypia, finely granular or vesicular chromatin, and small nucleoli. Nuclear indentations were a common finding. There were up to 3 mitoses per 10 HPF. The cytoplasm was slightly eosinophilic or clear. Scattered non-tumor large multinucleated cells were present. Immunohistochemically, the tumor cells showed diffuse positivity for TFE3, CD10, vimentin, and IFITM1. Other markers examined were negative, and the expression of lineage-specific markers was not found. NGS analysis revealed a fusion transcript of the YAP1 and TFE3 genes, and a pathogenic variant of the MUTYH gene. Conclusion Our finding supports the recent data suggesting that CCSTL represents a distinct entity characterized by the recurrent YAP1-TFE3 fusion. |
| first_indexed | 2024-04-10T19:45:13Z |
| format | Article |
| id | doaj.art-6bcb0169a3c54ae49cc4c8bf35c18e67 |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-04-10T19:45:13Z |
| publishDate | 2023-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-6bcb0169a3c54ae49cc4c8bf35c18e672023-01-29T12:03:07ZengBMCDiagnostic Pathology1746-15962023-01-011811510.1186/s13000-023-01304-0Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusionRadek Jakša0Ivana Stružinská1Michaela Kendall Bártů2Stanislav Trča3Radoslav Matěj4Pavel Dundr5Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in PragueDepartment of Pathology, First Faculty of Medicine, Charles University and General University Hospital in PragueDepartment of Pathology, First Faculty of Medicine, Charles University and General University Hospital in PragueDepartment of Abdominal, Thoracic Surgery and Traumatology, First Faculty of Medicine, Charles University and General University Hospital in PragueDepartment of Pathology, First Faculty of Medicine, Charles University and General University Hospital in PragueDepartment of Pathology, First Faculty of Medicine, Charles University and General University Hospital in PragueAbstract Background Clear cell (hemangioblastoma-like) stromal tumor of the lung (CCSTL) is a rare pulmonary neoplasm. Recently, 9 cases of CCSTL harboring the YAP1-TFE3 gene fusion have been described, and it has been suggested that this aberration could be a characteristic feature of this tumor. Case presentation We here report another case of CCSTL in a 57-year-old male, which presented as a solitary lung nodule 45 mm in the greatest dimension. Microscopically, the tumor consisted of epithelioid to spindled cells with mild-to-moderate nuclear atypia, finely granular or vesicular chromatin, and small nucleoli. Nuclear indentations were a common finding. There were up to 3 mitoses per 10 HPF. The cytoplasm was slightly eosinophilic or clear. Scattered non-tumor large multinucleated cells were present. Immunohistochemically, the tumor cells showed diffuse positivity for TFE3, CD10, vimentin, and IFITM1. Other markers examined were negative, and the expression of lineage-specific markers was not found. NGS analysis revealed a fusion transcript of the YAP1 and TFE3 genes, and a pathogenic variant of the MUTYH gene. Conclusion Our finding supports the recent data suggesting that CCSTL represents a distinct entity characterized by the recurrent YAP1-TFE3 fusion.https://doi.org/10.1186/s13000-023-01304-0Clear cell (hemangioblastoma-like) stromal tumorLungYAP1-TFE3 fusion |
| spellingShingle | Radek Jakša Ivana Stružinská Michaela Kendall Bártů Stanislav Trča Radoslav Matěj Pavel Dundr Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion Diagnostic Pathology Clear cell (hemangioblastoma-like) stromal tumor Lung YAP1-TFE3 fusion |
| title | Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion |
| title_full | Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion |
| title_fullStr | Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion |
| title_full_unstemmed | Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion |
| title_short | Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion |
| title_sort | clear cell stromal tumor of the lung with multinucleated giant cells a report of a case with yap1 tfe3 fusion |
| topic | Clear cell (hemangioblastoma-like) stromal tumor Lung YAP1-TFE3 fusion |
| url | https://doi.org/10.1186/s13000-023-01304-0 |
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