Clear cell stromal tumor of the lung with multinucleated giant cells: a report of a case with YAP1-TFE3 fusion.

Autor: Jakša R; Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, 128 00, Prague 2, Czech Republic., Stružinská I; Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, 128 00, Prague 2, Czech Republic., Kendall Bártů M; Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, 128 00, Prague 2, Czech Republic., Trča S; Department of Abdominal, Thoracic Surgery and Traumatology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 00, Prague 2, Czech Republic., Matěj R; Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, 128 00, Prague 2, Czech Republic.; Department of Pathology, Charles University, 3rd Faculty of Medicine, University Hospital Kralovske Vinohrady, Prague, Czech Republic.; Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University, Thomayer Hospital, Prague, Czech Republic., Dundr P; Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, 128 00, Prague 2, Czech Republic. pavel.dundr@vfn.cz.
Jazyk: angličtina
Zdroj: Diagnostic pathology [Diagn Pathol] 2023 Jan 27; Vol. 18 (1), pp. 9. Date of Electronic Publication: 2023 Jan 27.
DOI: 10.1186/s13000-023-01304-0
Abstrakt: 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.
(© 2023. The Author(s).)
Databáze: MEDLINE
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