Cargando…
The clinical genetics of phaeochromocytoma and paraganglioma
Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Endocrinologia e Metabologia
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522248/ https://www.ncbi.nlm.nih.gov/pubmed/29166454 http://dx.doi.org/10.1590/2359-3997000000299 |
_version_ | 1785110317703888896 |
---|---|
author | Kavinga Gunawardane, P. T. Grossman, Ashley |
author_facet | Kavinga Gunawardane, P. T. Grossman, Ashley |
author_sort | Kavinga Gunawardane, P. T. |
collection | PubMed |
description | Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Nonetheless, apparently sporadic phaeochromocytoma too show high germline mutation rates. Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis. Apart from this, the genetic profile has important relevance for tumour location and biochemical profile, and can be a useful predictor of future tumour behaviour. It also enables family screening and surveillance. Moreover, recent studies have demonstrated significant driver somatic mutations in up to 75% of all tumours. Arch Endocrinol Metab. 2017;61(5):490-500 |
format | Online Article Text |
id | pubmed-10522248 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Sociedade Brasileira de Endocrinologia e Metabologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-105222482023-09-27 The clinical genetics of phaeochromocytoma and paraganglioma Kavinga Gunawardane, P. T. Grossman, Ashley Arch Endocrinol Metab Review Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Nonetheless, apparently sporadic phaeochromocytoma too show high germline mutation rates. Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis. Apart from this, the genetic profile has important relevance for tumour location and biochemical profile, and can be a useful predictor of future tumour behaviour. It also enables family screening and surveillance. Moreover, recent studies have demonstrated significant driver somatic mutations in up to 75% of all tumours. Arch Endocrinol Metab. 2017;61(5):490-500 Sociedade Brasileira de Endocrinologia e Metabologia 2017-09-01 /pmc/articles/PMC10522248/ /pubmed/29166454 http://dx.doi.org/10.1590/2359-3997000000299 Text en https://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Kavinga Gunawardane, P. T. Grossman, Ashley The clinical genetics of phaeochromocytoma and paraganglioma |
title | The clinical genetics of phaeochromocytoma and paraganglioma |
title_full | The clinical genetics of phaeochromocytoma and paraganglioma |
title_fullStr | The clinical genetics of phaeochromocytoma and paraganglioma |
title_full_unstemmed | The clinical genetics of phaeochromocytoma and paraganglioma |
title_short | The clinical genetics of phaeochromocytoma and paraganglioma |
title_sort | clinical genetics of phaeochromocytoma and paraganglioma |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522248/ https://www.ncbi.nlm.nih.gov/pubmed/29166454 http://dx.doi.org/10.1590/2359-3997000000299 |
work_keys_str_mv | AT kavingagunawardanept theclinicalgeneticsofphaeochromocytomaandparaganglioma AT grossmanashley theclinicalgeneticsofphaeochromocytomaandparaganglioma AT kavingagunawardanept clinicalgeneticsofphaeochromocytomaandparaganglioma AT grossmanashley clinicalgeneticsofphaeochromocytomaandparaganglioma |