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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Bioscientifica Ltd
2022
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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. |
format | Online Article Text |
id | pubmed-10259326 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
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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