The clinical genetics of phaeochromocytoma and paraganglioma
ABSTRACT 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 Neurofibromato...
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| Format: | Article |
| Language: | English |
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Brazilian Society of Endocrinology and Metabolism
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| Series: | Archives of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000500490&lng=en&tlng=en |
| _version_ | 1811240674998091776 |
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| author | P. T. Kavinga Gunawardane Ashley Grossman |
| author_facet | P. T. Kavinga Gunawardane Ashley Grossman |
| author_sort | P. T. Kavinga Gunawardane |
| collection | DOAJ |
| description | ABSTRACT 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 |
| first_indexed | 2024-04-12T13:24:24Z |
| format | Article |
| id | doaj.art-9f921d0c76504c929a9fb23c4e8924e6 |
| institution | Directory Open Access Journal |
| issn | 2359-4292 |
| language | English |
| last_indexed | 2024-04-12T13:24:24Z |
| publisher | Brazilian Society of Endocrinology and Metabolism |
| record_format | Article |
| series | Archives of Endocrinology and Metabolism |
| spelling | doaj.art-9f921d0c76504c929a9fb23c4e8924e62022-12-22T03:31:23ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-429261549050010.1590/2359-3997000000299S2359-39972017000500490The clinical genetics of phaeochromocytoma and paragangliomaP. T. Kavinga GunawardaneAshley GrossmanABSTRACT 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):490-500http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000500490&lng=en&tlng=enPhaeochromocytomaparagangliomagenetics |
| spellingShingle | P. T. Kavinga Gunawardane Ashley Grossman The clinical genetics of phaeochromocytoma and paraganglioma Archives of Endocrinology and Metabolism Phaeochromocytoma paraganglioma genetics |
| 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 | Phaeochromocytoma paraganglioma genetics |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000500490&lng=en&tlng=en |
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