New perspectives on pheochromocytoma and paraganglioma: toward a molecular classification

J Crona, D Taïeb, K Pacak - Endocrine reviews, 2017 - academic.oup.com
A molecular biology–based taxonomy has been proposed for pheochromocytoma and
paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant …

[HTML][HTML] SDH mutations in cancer

C Bardella, PJ Pollard, I Tomlinson - Biochimica et Biophysica Acta (BBA) …, 2011 - Elsevier
The SDHA, SDHB, SDHC, SDHD genes encode the four subunits of succinate
dehydrogenase (SDH; mitochondrial complex II), a mitochondrial enzyme involved in two …

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline

JWM Lenders, QY Duh, G Eisenhofer… - The Journal of …, 2014 - academic.oup.com
Objective: The aim was to formulate clinical practice guidelines for pheochromocytoma and
paraganglioma (PPGL). Participants: The Task Force included a chair selected by the …

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

I Comino-Méndez, FJ Gracia-Aznárez, F Schiavi… - Nature …, 2011 - nature.com
Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine
susceptibility genes described to date,,,, but there are familial cases without mutations in …

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

J Welander, P Söderkvist… - Endocrine-related cancer, 2011 - erc.bioscientifica.com
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors
of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can …

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

N Burnichon, A Cascón, F Schiavi, NP Morales… - Clinical cancer …, 2012 - AACR
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically
heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations …

15 Years of paraganglioma: clinical manifestations of paraganglioma syndromes types 1–5

DE Benn, BG Robinson… - Endocrine-related …, 2015 - erc.bioscientifica.com
The paraganglioma (PGL) syndromes types 1–5 are autosomal dominant disorders
characterized by familial predisposition to PGLs, phaeochromocytomas (PCs), renal cell …

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes

AP Gimenez-Roqueplo, PL Dahia… - Hormone and …, 2012 - thieme-connect.com
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are catecholamine-secreting
tumors of neural crest origin. Once collectively known as the '10% tumor', based on the …

Genetic analysis of von Hippel‐Lindau disease

M Nordstrom‐O'Brien, RB van der Luijt… - Human …, 2010 - Wiley Online Library
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital
polycythemia, and are found in many sporadic tumor types as well. Reports of VHL …

Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma

G Eisenhofer, JWM Lenders, H Timmers… - Clinical …, 2011 - academic.oup.com
BACKGROUND Pheochromocytomas are rare catecholamine-producing tumors derived in
more than 30% of cases from mutations in 9 tumor-susceptibility genes identified to date …