دورية أكاديمية

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

التفاصيل البيبلوغرافية
العنوان: Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma
المؤلفون: Calsina, Bruna, Piñeiro-Yáñez, Elena, Martínez-Montes, Ángel M., Caleiras, Eduardo, Fernández-Sanromán, Ángel, Monteagudo, María, Lopez Fernandez, Adrià, De Almeida Toledo, Rodrigo
المساهمون: Institut Català de la Salut, Calsina B, Martínez-Montes ÁM, Fernández-Sanromán Á, Monteagudo M Hereditary Endocrine Cancer Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. Piñeiro-Yáñez E Bioinformatics Unit, Structural Biology Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. Caleiras E Histopathology Core Unit, Biotechnology Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. López-Fernández A Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Toledo RA Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Institute of Health Carlos III (ISCIII), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
بيانات النشر: Nature Portfolio
سنة النشر: 2023
مصطلحات موضوعية: Genòmica, Tumors neuroendocrins - Aspectes genètics, Metàstasi, DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma, PHENOMENA AND PROCESSES::Cell Physiological Phenomena::Cellular Microenvironment::Tumor Microenvironment, DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology::Genomics, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma, FENÓMENOS Y PROCESOS::fenómenos fisiológicos celulares::microambiente celular::microambiente tumoral, DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::biología computacional::genómica
الوصف: Adrenal gland diseases; Cancer genomics; Prognostic markers ; Malalties de les glàndules suprarenals; Genòmica del càncer; Marcadors pronòstics ; Enfermedades de las glándulas suprarrenales; Genómica del cáncer; Marcadores pronósticos ; 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. ; This work was supported by Project PI17/01796 and PI20/01169 to M.R. [Instituto de Salud Carlos III (ISCIII), Acción Estratégica en Salud, cofinanciado a través del Fondo Europeo de Desarrollo Regional (FEDER)], Paradifference Foundation [no grant number applicable to M.R.], Pheipas Association [no grant number applicable to M.R.], the Clinical Research Priority Program of the University of Zurich for the CRPP HYRENE to F.B., the Deutsche Forschungsgemeinschaft (DFG) within the CRC/Transregio 205/1 (Project No. 314061271-TRR205 to to F.B., M.F., N.B., and G.E.) and the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Science and ...
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: English
تدمد: 2041-1723
العلاقة: Nature Communications;14; https://doi.org/10.1038/s41467-023-36769-6Test; Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, et al. Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma. Nat Commun. 2023 Feb 28;14:1122.; https://hdl.handle.net/11351/9205Test
DOI: 10.1038/s41467-023-36769-6
الإتاحة: https://doi.org/10.1038/s41467-023-36769-6Test
https://hdl.handle.net/11351/9205Test
حقوق: Attribution 4.0 International ; http://creativecommons.org/licenses/by/4.0Test/ ; info:eu-repo/semantics/openAccess
رقم الانضمام: edsbas.61EAD407
قاعدة البيانات: BASE
الوصف
تدمد:20411723
DOI:10.1038/s41467-023-36769-6