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Articles by Bruna Calsina
MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma
Abstract Externe IDs PubMed 39218714 Schlagworte
Convergent genetic adaptation in human tumors developed under systemic hypoxia and in populations living at high altitudes
Abstract EPAS1HIF2a is the primary gene implicated in systemic hypoxia adaptation. Conversely, aberrantly activated EPAS1HIF2a acts as a tumor driver against which anti-tumor therapeutics are proven effective. We elucidated connections between adaptation to systemic hypoxia in high-altitude populations, such as Tibetans and Sherpas, and human tumors.
Genetic bases of pheochromocytoma and paraganglioma
Keywords: pheochromocytoma; paraganglioma; precision medicine; omics Pheochromocytomas (PCCs) and paragangliomas (PGLs), all together called PPGLs, are rare neuroendocrine tumors with a complex genetic etiology. PCCs develop in the adrenal medulla, and the term PGL is reserved for tumors that arise from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck (H&N) area (Koopman et al. 2019).
Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma - Nature Communications
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Sample cohort and clinical data All PPGL tumor tissues and patient’s germline samples were obtained from patients with informed written consent for this purpose, in accordance with institutional ethical-approved protocols.
By Elena Piñeiro-Yáñez, Rafael Torres-Perez, Coral Fustero-Torre, Alberto Díaz-Talavera, Nicole Bechmann, Adria Lopez-Fernandez, Martin Fassnacht, Felix Beuschlein, Rodrigo A. Toledo, Sandra Rodriguez-Perales, Alberto Cascon, Karel Pacak, Fátima Al-Shahrour, Bruna Calsina, Ángel M. Martínez-Montes, Ángel Fernández-Sanromán, María Monteagudo, Santiago García-Martín, Javier Lanillos, Geoffrey Macintyre, Cristina Montero-Conde
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Nature
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