YAP1::TFE3 fusion in a case of malignant TFE3-rearranged PEComa of the lung: expanding the spectrum of pulmonary PEComa-like mesenchymal neoplasms

Ying-Han R Hsu; Shamini Selvarajah; Prodipto Pal; Thomas K Waddell

doi:10.1007/s00428-024-04016-y

YAP1::TFE3 fusion in a case of malignant TFE3-rearranged PEComa of the lung: expanding the spectrum of pulmonary PEComa-like mesenchymal neoplasms

Virchows Arch. 2025 Jan 3. doi: 10.1007/s00428-024-04016-y. Online ahead of print.

Authors

Ying-Han R Hsu^{1

2}, Shamini Selvarajah^{3

4}, Prodipto Pal^{3

4}, Thomas K Waddell^{5

6}

Affiliations

¹ Laboratory Medicine Program, University Health Network, Toronto, ON, Canada. roger.hsu@utoronto.ca.
² Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. roger.hsu@utoronto.ca.
³ Laboratory Medicine Program, University Health Network, Toronto, ON, Canada.
⁴ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁵ Division of Thoracic Surgery, University Health Network, Toronto, ON, Canada.
⁶ Department of Surgery, Division of Thoracic Surgery, University of Toronto, Toronto, ON, Canada.

PMID: 39751663
DOI: 10.1007/s00428-024-04016-y

Abstract

The family of PEComa encompasses a heterogeneous group of related mesenchymal neoplasms with myomelanocytic differentiation, a distinctive subset of which is characterized by TFE3 gene rearrangement. Recurrent YAP1::TFE3 fusion has been found in clear cell stromal tumor of the lung (CCST-L), and most recently, in two cases classified as inflammatory spindle cell PEComa. However, the potential relationship between CCST-L and PEComa remains unclear. Herein, we report a case of primary pulmonary malignant TFE3-rearranged PEComa with prototypical morphological and immunohistochemical features, unexpectedly harboring YAP1::TFE3 fusion. Our findings further expanded the morphological and molecular spectrum of PEComa-like mesenchymal neoplasms of the lung.

Keywords: YAP1::TFE3 fusion; PEComa; TFE3 gene rearrangement.