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Deciphering the molecular landscape and the tumor microenvironment of Perivascular Epitheloid Cell Neoplasma (PEComa)

Authors:

Andreas Seeber, Lea Holzer, Andrew Elliott, Dietmer Dammerer, Vaia Florou, Roman Groisberg, Benjamin Henninger, Wolfgang Michael Korn, Johannes Lanbach, Margaret von Mehren, Jaime Modiano, Steven O`Day, Alexander Perathoner, Andrew Rosenberg, Katja Schmitz, Anton Schwabegger, Martin Thaler, Jonathan C. Trent, Kai Zimmer, Florian Kocher

Background: PEComa is a rare mesenchymal neoplasm composed of perivascular epithelioid cells. Due to its rarity, diagnosis is challenging and no standardized treatment guidelines have been established. A subgroup of PEComas are characterized by a loss of function mutation in TSC1/2 that activates the PIK3-Akt-mTOR pathway. In the majority of patients, however, the molecular landscape and the composition of the tumor microenvironment (TME) remain largely unclear. Thus, we conducted this study to elucidate the genetic landscape of PEComas. A comparative analysis was performed with melanoma as a representative immunogenic tumor type.

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