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Case Reports
. 2023 Jan 27;18(1):9.
doi: 10.1186/s13000-023-01304-0.

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

Radek Jakša  1 , Ivana Stružinská  1 , Michaela Kendall Bártů  1 , Stanislav Trča  2 , Radoslav Matěj  1   3   4 , Pavel Dundr  5
Affiliations
Case Reports

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

Radek Jakša et al. Diagn Pathol. .

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.

Keywords: Clear cell (hemangioblastoma-like) stromal tumor; Lung; YAP1-TFE3 fusion.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Hematoxylin–eosin staining showing tumor consisted of epithelioid to spindled cells with mild-to-moderate nuclear atypia, finely granular or vesicular chromatin, and small nucleoli (400x) A. In the tumor there were small foci of necrosis (200x) B. High-power view showed scattered large multinucleated giant cells (400x) C. Immunohistochemically, the tumor showed diffuse expression of TFE3 D, CD10 (E), and IFITM1 (F) (400x)
Fig. 2
Fig. 2
Breakpoit analysis of the YAP1-TFE3 fusion RNA sequencing analysis revealed 265 bases long sequence (identified in 242 × reads; a copy of the fusion sequence is provided in the lower part of the figure). Verified breakpoints are indicated by double line and correspond to YAP1 breakpoint (GRCh37) chr11:102,056,862 and TFE3 breakpoint (GRCh37) chrX:48,891,297. According to the main RefSeq reference sequence NM_006106, the final fusion transcript includes exonisation of a part of YAP1 intron 3, which corresponds to YAP1 exon 4 according to other alternative transcripts (e.g. NM_001130145), followed by exon 7 of TFE3 (NM_006521). The upper part of the figure shows a diagram of the sequence identification
See this image and copyright information in PMC

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