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Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia, respectively. Approximately 15–25% of PCC/PGL can become metastatic. Up to 30–40% of patients with PCC/PGL have a germline pathogenic variant in a known susceptibi...

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Autores principales: Turin, Christie G, Crenshaw, Molly M, Fishbein, Lauren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259326/
https://www.ncbi.nlm.nih.gov/pubmed/37435466
http://dx.doi.org/10.1530/EO-22-0044
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author Turin, Christie G
Crenshaw, Molly M
Fishbein, Lauren
author_facet Turin, Christie G
Crenshaw, Molly M
Fishbein, Lauren
author_sort Turin, Christie G
collection PubMed
description Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia, respectively. Approximately 15–25% of PCC/PGL can become metastatic. Up to 30–40% of patients with PCC/PGL have a germline pathogenic variant in a known susceptibility gene for PCC/PGL; therefore, all patients with PCC/PGL should undergo clinical genetic testing. Most of the susceptibility genes are associated with variable penetrance for PCC/PGL and are associated with different syndromes, which include susceptibility for other tumors and conditions. The objective of this review is to provide an overview of the germline susceptibility genes for PCC/PGL, the associated clinical syndromes, and recommended surveillance.
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spelling pubmed-102593262023-07-11 Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes Turin, Christie G Crenshaw, Molly M Fishbein, Lauren Endocr Oncol Review Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia, respectively. Approximately 15–25% of PCC/PGL can become metastatic. Up to 30–40% of patients with PCC/PGL have a germline pathogenic variant in a known susceptibility gene for PCC/PGL; therefore, all patients with PCC/PGL should undergo clinical genetic testing. Most of the susceptibility genes are associated with variable penetrance for PCC/PGL and are associated with different syndromes, which include susceptibility for other tumors and conditions. The objective of this review is to provide an overview of the germline susceptibility genes for PCC/PGL, the associated clinical syndromes, and recommended surveillance. Bioscientifica Ltd 2022-06-28 /pmc/articles/PMC10259326/ /pubmed/37435466 http://dx.doi.org/10.1530/EO-22-0044 Text en © The authors https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License. (https://creativecommons.org/licenses/by/4.0/)
spellingShingle Review
Turin, Christie G
Crenshaw, Molly M
Fishbein, Lauren
Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
title Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
title_full Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
title_fullStr Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
title_full_unstemmed Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
title_short Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
title_sort pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259326/
https://www.ncbi.nlm.nih.gov/pubmed/37435466
http://dx.doi.org/10.1530/EO-22-0044
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