Pheochromocytoma classification: Difference between revisions
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{{CMG}}; {{AE}} {{AAM}} {{MAD}} | {{CMG}}; {{AE}} {{AAM}} {{MAD}} | ||
==Overview== | ==Overview== | ||
Pheochromocytoma can be either [[benign]] or [[malignant]] and can be localized, regional, or [[metastatic]]. It can be familial, non-familial and sporadic. | Pheochromocytoma can be either [[benign]] or [[malignant]] and can be localized, regional, or [[metastatic]]. It can be [[Familial|familial,]] non-familial and sporadic. | ||
==Classification== | ==Classification== | ||
=== Pheochromocytoma may be classified by nature either: === | === Pheochromocytoma may be classified by nature either: === | ||
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* [[malignant]]: 10% of pheochromocytomas are malignant. | * [[malignant]]: 10% of pheochromocytomas are malignant. | ||
* Malignant and benign tumors share the same biochemical and histological characters, the only difference is the ability of the malignant tumor to invade local and distant tissues | * Malignant and benign tumors share the same biochemical and histological characters, the only difference is the ability of the malignant tumor to invade local and distant tissues according to WHO Classification of Tumours in 2004. | ||
* Most cases need to follow up for long durations. | * Most cases need to follow up for long durations. | ||
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* Localized: 95% of pheochromocytomas are in the abdomen, 85 to 90 % are intra-adrenal and 5 to 10 percent are multiple, 10% are extra-adrenal and are referred to as catecholamine-secreting paragangliomas. | * Localized: 95% of pheochromocytomas are in the abdomen, 85 to 90 % are intra-adrenal and 5 to 10 percent are multiple, 10% are extra-adrenal and are referred to as catecholamine-secreting paragangliomas. | ||
* Regional | * Regional | ||
* [[metastatic]]: to lung, bone, head, thorax and liver | * [[metastatic]]: to lung, bone, head, thorax, and liver | ||
=== '''Pheochromocytoma can be either familial,non-familial or sporadic:''' === | === '''Pheochromocytoma can be either familial,non-familial or sporadic:''' === | ||
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==== Non-familial pheochromocytoma: ==== | ==== Non-familial pheochromocytoma: ==== | ||
the majority of them are positive for KIT expression, some are not. A partial explanation was provided by the finding of activating mutations in another gene encoding an RTK, the platelet-derived growth factor receptor alpha (''PDGFRA'') gene in some KIT-negative GISTs: | the majority of them are positive for KIT expression, some are not. A partial explanation was provided by the finding of activating mutations in another gene encoding an RTK, the [[Platelet-derived growth factor receptor|platelet-derived growth factor receptor alpha]] (''PDGFRA'') gene in some [[Gastrointestinal stromal tumor|KIT-negative GISTs]]: | ||
* Cholelithiasis | * [[Cholelithiasis]] | ||
* Renal artery stenosis(gastrointestinal stromal tumor | * [[Renal artery stenosis]](gastrointestinal stromal tumor | ||
* Paraganglioma | * [[Paraganglioma]] | ||
* Adrenal cortical adenoma | * [[Adrenal cortical cancer|Adrenal cortical adenoma]] | ||
==== Sporadic''''':''''' ==== | ==== Sporadic''''':''''' ==== | ||
Most catecholamine-secreting tumors are sporadic.Mutations were identified in most of the sporadic cases. May be due to spontaneous mutation, decreased penetrance, maternal imprinting.<ref name="pmid22517557">{{cite journal| author=Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N et al.| title=A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. | journal=Horm Metab Res | year= 2012 | volume= 44 | issue= 5 | pages= 359-66 | pmid=22517557 | doi=10.1055/s-0032-1304594 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22517557 }}</ref> 50% of patients had a pathogenic mutation in ''SDHB'', ''SDHD'', or ''VHL''<ref name="pmid230723242">{{cite journal| author=Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV et al.| title=Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. | journal=Clin Endocrinol (Oxf) | year= 2013 | volume= 78 | issue= 6 | pages= 898-906 | pmid=23072324 | doi=10.1111/cen.12074 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23072324 }}</ref> | Most catecholamine-secreting tumors are sporadic. Mutations were identified in most of the sporadic cases. May be due to spontaneous mutation, decreased penetrance, maternal imprinting.<ref name="pmid22517557">{{cite journal| author=Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N et al.| title=A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. | journal=Horm Metab Res | year= 2012 | volume= 44 | issue= 5 | pages= 359-66 | pmid=22517557 | doi=10.1055/s-0032-1304594 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22517557 }}</ref> 50% of patients had a pathogenic mutation in ''[[SDHB]]'', ''[[SDHD]]'', or ''[[Von Hippel-Lindau tumor suppressor|VHL.]]''<ref name="pmid230723242">{{cite journal| author=Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV et al.| title=Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. | journal=Clin Endocrinol (Oxf) | year= 2013 | volume= 78 | issue= 6 | pages= 898-906 | pmid=23072324 | doi=10.1111/cen.12074 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23072324 }}</ref> | ||
=== Pheochromocytoma can be classified on genetic basis into cluster 1 and cluster 2''':''' === | === Pheochromocytoma can be classified on genetic basis into cluster 1 and cluster 2''':''' === | ||
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|- | |- | ||
! | ! | ||
* '''Noradrenergic''' | * '''[[Norepinephrine|Noradrenergic]]''' | ||
* Succinate dehydrogenase (SDH) subunit genes | * [[Succinate dehydrogenase|Succinate dehydrogenase (]]SDH) subunit genes | ||
* Von Hippel-Lindau (VHL) disease | * [[Von Hippel-Lindau Disease|Von Hippel-Lindau]] (VHL) disease | ||
* Fumarate hydratase gene mutations | * [[Fumarate hydratase]] gene mutations | ||
| | | | ||
* '''Adrenergic.<sup>[[Pheochromocytoma pathophysiology#cite note-pmid23933153-3|[3]]]</sup>''' | * '''[[Adrenergic|Adrenergic.]]<sup>[[Pheochromocytoma pathophysiology#cite note-pmid23933153-3|[3]]]</sup>''' | ||
* '''Multiple endocrine neoplasia type 2A''' | * '''Multiple endocrine neoplasia type 2A''' | ||
* '''Multiple endocrine neoplasia type 2B''' | * '''Multiple endocrine neoplasia type 2B''' | ||
* '''Neurofibromatosis type 1 (NF1)''' | * '''[[Neurofibromatosis type I|Neurofibromatosis type 1]] (NF1)''' | ||
|} | |} | ||
. Patients with the succinate dehydrogenase B mutations are likely to develop a malignant disease.<sup>[[Pheochromocytoma pathophysiology#cite note-pmid15328326-4|[4]]]</sup> | . Patients with the succinate dehydrogenase B mutations are likely to develop a malignant disease.<sup>[[Pheochromocytoma pathophysiology#cite note-pmid15328326-4|[4]]]</sup> |
Revision as of 17:03, 31 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2] Mohammed Abdelwahed M.D[3]
Overview
Pheochromocytoma can be either benign or malignant and can be localized, regional, or metastatic. It can be familial, non-familial and sporadic.
Classification
Pheochromocytoma may be classified by nature either:
- Malignant and benign tumors share the same biochemical and histological characters, the only difference is the ability of the malignant tumor to invade local and distant tissues according to WHO Classification of Tumours in 2004.
- Most cases need to follow up for long durations.
Pheochromocytomas can be classified by spread ability either:
- Localized: 95% of pheochromocytomas are in the abdomen, 85 to 90 % are intra-adrenal and 5 to 10 percent are multiple, 10% are extra-adrenal and are referred to as catecholamine-secreting paragangliomas.
- Regional
- metastatic: to lung, bone, head, thorax, and liver
Pheochromocytoma can be either familial,non-familial or sporadic:
Familial pheochromocytoma
- is an autosomal dominant disorder characterized by skull, neck, thorax, abdomen and urinary bladder. They are associated with other syndromes named Multiple endocrine neoplasias (MEN2) Which are autosomal dominant syndromes controlled by RET gene. Pheochromocytoma occurs in 50% of patients with MEN2 as follows:
MEN1 | MEN2 |
---|---|
|
|
Non-familial pheochromocytoma:
the majority of them are positive for KIT expression, some are not. A partial explanation was provided by the finding of activating mutations in another gene encoding an RTK, the platelet-derived growth factor receptor alpha (PDGFRA) gene in some KIT-negative GISTs:
- Cholelithiasis
- Renal artery stenosis(gastrointestinal stromal tumor
- Paraganglioma
- Adrenal cortical adenoma
Sporadic:
Most catecholamine-secreting tumors are sporadic. Mutations were identified in most of the sporadic cases. May be due to spontaneous mutation, decreased penetrance, maternal imprinting.[1] 50% of patients had a pathogenic mutation in SDHB, SDHD, or VHL.[2]
Pheochromocytoma can be classified on genetic basis into cluster 1 and cluster 2:
Cluster 1 | Cluster 2 |
---|---|
|
|
. Patients with the succinate dehydrogenase B mutations are likely to develop a malignant disease.[4]
References
- ↑ Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N; et al. (2012). "A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma". Horm Metab Res. 44 (5): 359–66. doi:10.1055/s-0032-1304594. PMID 22517557.
- ↑ Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV; et al. (2013). "Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma". Clin Endocrinol (Oxf). 78 (6): 898–906. doi:10.1111/cen.12074. PMID 23072324.