Title:Novel Driver Genes and Mutations in Lung Pecoma: A Case Report
Volume: 21
Issue: 3
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*
Affiliation:
- Laboratory of Cancer Progression Biology, Cancer Research Institute, Tomsk National Research Medical Center,
Russian Academy of Sciences, Tomsk, Russia
Keywords:
Lung, pecoma, gene, mutation, signaling pathway, molecular intricacies.
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.
