Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working …

JWM Lenders, MN Kerstens, L Amar… - Journal of …, 2020 - journals.lww.com
Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require
timely diagnosis because of their potentially serious cardiovascular and sometimes life …

Hypoxia-inducible factor 2 alpha (HIF2α) inhibitors: Targeting genetically driven tumor hypoxia

RA Toledo, C Jimenez, G Armaiz-Pena… - Endocrine …, 2023 - academic.oup.com
Tumors driven by deficiency of the VHL gene product, which is involved in degradation of
the hypoxia-inducible factor subunit 2 alpha (HIF2α), are natural candidates for targeted …

Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas

R García-Carbonero, F Matute Teresa… - Clinical and …, 2021 - Springer
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that
arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic …

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

B Calsina, E Piñeiro-Yáñez… - Nature …, 2023 - nature.com
The mechanisms triggering metastasis in pheochromocytoma/paraganglioma are unknown,
hindering therapeutic options for patients with metastatic tumors (mPPGL). Herein we show …

Genetic bases of pheochromocytoma and paraganglioma

A Cascón, B Calsina, M Monteagudo… - Journal of …, 2023 - jme.bioscientifica.com
The genetics of pheochromocytoma and paraganglioma (PPGL) has become increasingly
complex over the last two decades. The list of genes involved in the development of these …

HIF2α supports pro-metastatic behavior in pheochromocytomas/paragangliomas

N Bechmann, ML Moskopp, M Ullrich… - Endocrine-related …, 2020 - erc.bioscientifica.com
Mutations that drive the stabilization of hypoxia inducible factor 2α (HIF2α) and downstream
pseudohypoxic signaling are known to predispose to the development of …

Sino-European differences in the genetic landscape and clinical presentation of pheochromocytoma and paraganglioma

J Jiang, J Zhang, Y Pang, N Bechmann… - The Journal of …, 2020 - academic.oup.com
Abstract Context Pheochromocytomas and paragangliomas (PPGLs) are characterized by
distinct genotype-phenotype relationships according to studies largely restricted to …

Hereditary endocrine tumours: current state-of-the-art and research opportunities: metastatic pheochromocytomas and paragangliomas: proceedings of the MEN2019 …

PLM Dahia, R Clifton-Bligh… - Endocrine-related …, 2020 - erc.bioscientifica.com
Pheochromocytomas and paragangliomas (PPGLs) are adrenal or extra-adrenal
autonomous nervous system-derived tumors. Most PPGLs are benign, but approximately …

Hypoxia-inducible factor 2α: a key player in tumorigenesis and metastasis of pheochromocytoma and paraganglioma?

N Bechmann, G Eisenhofer - Experimental and Clinical …, 2022 - thieme-connect.com
Germline or somatic driver mutations linked to specific phenotypic features are identified in
approximately 70% of all catecholamine-producing pheochromocytomas and …

The Molecular Classification of Pheochromocytomas and Paragangliomas: Discovering the Genomic and Immune Landscape of Metastatic Disease

CJM de Bresser, RR de Krijger - Endocrine Pathology, 2024 - Springer
Abstract Pheochromocytomas (PCCs) and paragangliomas (PGLs, together PPGLs) are the
most hereditary tumors known. PPGLs were considered benign, but the fourth edition of the …