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image of Novel Driver Genes and Mutations in Lung Pecoma: A Case Report

Abstract

Introduction

Perivascular epithelioid cell tumors (PEComa) are rare mesenchymal neoplasms characterized by perivascular epithelioid cells. Despite their common occurrence in the uterus, gastrointestinal tract, and retroperitoneum, this study presents an exceptional case of PEComa identified in the lung, warranting unique molecular exploration.

Case Report

A 50-year-old man was diagnosed with a 6 cm neoplasm in the lower lobe of the right lung without enlarged lymph nodes during a routine examination. Thoracotomy, extended lower bilobectomy, and D3 lymphadenectomy were performed. Histological and immunohistochemical analysis diagnosed a PEComa. No conventional and mutations specific to PEComa, which resulted in mTOR pathway activation, were detected by whole-exome sequencing. In contrast, mutations were unveiled in the , , and genes that could be an alternative mechanism governing mTOR activation.

Conclusion

These findings provide novel insights into the molecular intricacies of lung PEComa, showcasing the distinctive roles of , , and mutations.

© 2024 Bentham Science Publishers
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2024-10-25
2025-01-08

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/content/journals/crmr/10.2174/011573398X322092241022090829
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Novel Driver Genes and Mutations in Lung Pecoma: A Case Report
Bentham Science Publishers ; https://doi.org/10.2174/011573398X322092241022090829
/content/journals/crmr/10.2174/011573398X322092241022090829
/content/journals/crmr/10.2174/011573398X322092241022090829
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  • Article Type:     Case Report
Keywords: Lung ; sequencing ; mutation ; signaling pathway ; pecoma ; gene

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