Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.

doi:10.3389/fendo.2022.1070074

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Article

Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.

Frontiers in endocrinology - 1 Jan 2022

Mellid Sara, Gil Eduardo, Letón Rocío, Caleiras Eduardo, Honrado Emiliano, Richter Susan, Palacios Nuria, Lahera Marcos, Galofré Juan C, López-Fernández Adriá, Calatayud Maria, Herrera-Martínez Aura D, Galvez María A, Matias-Guiu Xavier, Balbín Milagros, Korpershoek Esther, Lim Eugénie S, Maletta Francesca, Lider Sofia, Fliedner Stephanie M J, Bechmann Nicole, Eisenhofer Graeme, Canu Letizia, Rapizzi Elena, Bancos Irina, Robledo Mercedes, Cascón Alberto

Abstract excerpt

Introduction: The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of...

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Identifiers

PMID: 36760809
DOI: 10.3389/fendo.2022.1070074
PMCID: PMC9905101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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