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DOI 10.1038/s41467-023-36769-6

Медицинская библиотека · Nature communications · 2023

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma.

Calsina Bruna, Piñeiro-Yáñez Elena, Martínez-Montes Ángel M, Caleiras Eduardo, Fernández-Sanromán Ángel, Monteagudo María, Torres-Pérez Rafael, Fustero-Torre Coral, Pulgarín-Alfaro Marta, Gil Eduardo, Letón Rocío, Jiménez Scherezade, García-Martín Santiago, Martin Maria Carmen, Roldán-Romero Juan María, Lanillos Javier, Mellid Sara, Santos María, Díaz-Talavera Alberto, Rubio Ángeles, González Patricia, Hernando Barbara, Bechmann Nicole, Dona Margo, Calatayud María, Guadalix Sonsoles, Álvarez-Escolá Cristina, Regojo Rita M, Aller Javier, Del Olmo-Garcia Maria Isabel, López-Fernández Adrià, Fliedner Stephanie M J, Rapizzi Elena, Fassnacht Martin, Beuschlein Felix, Quinkler Marcus, Toledo Rodrigo A, Mannelli Massimo, Timmers Henri J, Eisenhofer Graeme, Rodríguez-Perales Sandra, Domínguez Orlando, Macintyre Geoffrey, Currás-Freixes Maria, Rodríguez-Antona Cristina, Cascón Alberto, Leandro-García Luis J, Montero-Conde Cristina, Roncador Giovanna, García-García Juan Fernando, Pacak Karel, Al-Shahrour Fátima, Robledo Mercedes

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Аннотация

The mechanisms triggering metastasis in pheochromocytoma/paraganglioma are unknown, hindering therapeutic options for patients with metastatic tumors (mPPGL). Herein we show by genomic profiling of a large cohort of mPPGLs that high mutational load, microsatellite instability and somatic copy-number alteration burden are associated with ATRX/TERT alterations and are suitable prognostic markers. Transcriptomic analysis defines the signaling networks involved in the acquisition of metastatic competence and establishes a gene signature related to mPPGLs, highlighting CDK1 as an additional mPPGL marker. Immunogenomics accompanied by immunohistochemistry identifies a heterogeneous ecosystem at the tumor microenvironment level, linked to the genomic subtype and tumor behavior. Specifically, we define a general immunosuppressive microenvironment in mPPGLs, the exception being PD-L1 expressing MAML3-related tumors. Our study reveals canonical markers for risk of metastasis, and suggests the usefulness of including immune parameters in clinical management for PPGL prognostication and identification of patients who might benefit from immunotherapy.

Для цитирования: Calsina Bruna, Piñeiro-Yáñez Elena, Martínez-Montes Ángel M, Caleiras Eduardo, Fernández-Sanromán Ángel, Monteagudo María, Torres-Pérez Rafael, Fustero-Torre Coral, Pulgarín-Alfaro Marta, Gil Eduardo, Letón Rocío, Jiménez Scherezade, García-Martín Santiago, Martin Maria Carmen, Roldán-Romero Juan María, Lanillos Javier, Mellid Sara, Santos María, Díaz-Talavera Alberto, Rubio Ángeles, González Patricia, Hernando Barbara, Bechmann Nicole, Dona Margo, Calatayud María, Guadalix Sonsoles, Álvarez-Escolá Cristina, Regojo Rita M, Aller Javier, Del Olmo-Garcia Maria Isabel, López-Fernández Adrià, Fliedner Stephanie M J, Rapizzi Elena, Fassnacht Martin, Beuschlein Felix, Quinkler Marcus, Toledo Rodrigo A, Mannelli Massimo, Timmers Henri J, Eisenhofer Graeme, Rodríguez-Perales Sandra, Domínguez Orlando, Macintyre Geoffrey, Currás-Freixes Maria, Rodríguez-Antona Cristina, Cascón Alberto, Leandro-García Luis J, Montero-Conde Cristina, Roncador Giovanna, García-García Juan Fernando, Pacak Karel, Al-Shahrour Fátima, Robledo Mercedes. Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma.. Nature communications. 2023. DOI: 10.1038/s41467-023-36769-6.

Предметные рубрики MeSH

HumansAdrenal Gland NeoplasmsGenomicsNeoplasms, Second PrimaryParagangliomaPheochromocytomaTumor Microenvironment
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