Generic placeholder image

Current Respiratory Medicine Reviews

Editor-in-Chief

ISSN (Print): 1573-398X
ISSN (Online): 1875-6387

Case Report

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

Author(s): Tatiana Sergeevna Gerashchenko, Ksenia Sergeevna Davydova, Anastasia Alekseevna Korobeynikova, Rostislav Sergeevich Vorobev, Anton Andreevich Fedorov, Evgeny Bogdanovich Topolnitsky, Nikolay Anatolievich Shefer, Sergey Vladimirovich Vtorushin and Evgeny Vladimirovich Denisov*

Volume 21, Issue 3, 2025

Published on: 28 October, 2024

Page: [281 - 286] Pages: 6

DOI: 10.2174/011573398X322092241022090829

Price: $65

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 TSC1 and TSC2 mutations specific to PEComa, which resulted in mTOR pathway activation, were detected by whole-exome sequencing. In contrast, mutations were unveiled in the MTOR, EIF4EBP1, and PRAME 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 MTOR, EIF4EBP1, and PRAME mutations.

Keywords: Lung, pecoma, gene, mutation, signaling pathway, molecular intricacies.


Rights & Permissions Print Cite
© 2025 Bentham Science Publishers | Privacy Policy