[HTML][HTML] Genetic diagnosis in acromegaly and gigantism: from research to clinical practice

C Ramírez-Rentería, LC Hernández-Ramírez - Best Practice & Research …, 2024 - Elsevier
It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to
inheritable causes. Since this estimate was reported, however, multiple genetic defects …

Hypoxic Signaling Pathways in Carotid Body Tumors

K Cao, W Yuan, C Hou, Z Wang, J Yu, T Wang - Cancers, 2024 - mdpi.com
Simple Summary Carotid body tumors (CBTs) are rare tumors and only appear in 1–2
individuals per 100,000. The etiology of CBTs remains unclear; however, SDH mutations …

Management of Pheochromocytomas and Paragangliomas

JE Passman, H Wachtel - Surgical Clinics, 2024 - surgical.theclinics.com
Pheochromocytomas and paragangliomas (PPGLs) are catecholamine-producing
neuroendocrine tumors derived from chromaffin cells. 1–3 Pheochromocytomas are derived …

Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance

A De Leo, M Ruscelli, T Maloberti, S Coluccelli… - Virchows Archiv, 2024 - Springer
Tumors of the endocrine glands are common. Knowledge of their molecular pathology has
greatly advanced in the recent past. This review covers the main molecular alterations of …

Molecular Genetics of Pheochromocytoma/Paraganglioma

H Wachtel, KL Nathanson - Current Opinion in Endocrine and Metabolic …, 2024 - Elsevier
Pheochromocytomas and paragangliomas (PPGL) are neuroendocrine tumors which
secrete catecholamines, causing cardiovascular compromise. While isolated tumors and …

An update on the genetic drivers of corticotroph tumorigenesis

LCH Ramírez, L Peres-Rivas… - Experimental and …, 2024 - thieme-connect.com
Experimental and Clinical Endocrinology & Diabetes Page 1 This article is protected by
copyright. All rights reserved. Accepted Manuscript This is a PDF file of an unedited manuscript …

Hypoxic Signaling Pathways in Carotid Body Tumors. Cancers 2024, 16, 584

K Cao, W Yuan, C Hou, Z Wang, J Yu, T Wang - 2024 - europepmc.org
Carotid body tumors (CBTs) are rare tumors with a 1–2 incidence per 100,000 individuals.
CBTs may initially present without apparent symptoms, and symptoms begin to arise since …

Enhancing clinical care and investigating a novel therapeutic approach for multiple paragangliomas

N TUFTON - 2024 - qmro.qmul.ac.uk
Paragangliomas (PGLs) are rare tumours of the autonomic nervous system that cause high
morbidity and mortality. Diagnosis and management can be challenging and no consensus …

[PDF][PDF] Best Practice & Research Clinical Endocrinology & Metabolism

C Ramírez-Rentería, LC Hernández-Ramírez - 2024 - researchgate.net
Most somatotrophinomas arise sporadically due to somatic genetic defects [1, 2]. In contrast,
germline defects are estimated to explain only around 5% of all pituitary neuroendocrine …