Pheochromocytoma classification: Difference between revisions
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==Classification== | ==Classification== | ||
* | === Pheochromocytoma may be classified by nature either: === | ||
* [[benign|Benign]] | |||
* [[malignant]]: 10% of pheochromocytomas are malignant. | * [[malignant]]: 10% of pheochromocytomas are malignant. | ||
* Malignant and benign tumours share the same biochemical and histological characters,the only difference is the ability of the malignant tumor to invade local and | * Malignant and benign tumours share the same biochemical and histological characters, the only difference is the ability of the malignant tumor to invade local and distant tissues.(WHO Classification of Tumours, DeLellis RA, Lloyd RV, Heitz PU, Eng C. (Eds), IARC press, Lyon, France 2004) | ||
* Most cases need follow up for long durations. | * Most cases need follow up for long durations. | ||
=== '''Pheochromocytomas can be classified by spread ability either:''' === | === '''Pheochromocytomas can be classified by spread ability either:''' === | ||
* | * Localized: 95% of pheochromocytomas are in the abdomen, 85 to 90 % are intraadrenal and 5 to 10 percent are multiple, 10% are extraadrenal and are referred to as catecholamine-secreting paragangliomas. | ||
* | * Regional | ||
* [[metastatic]] | * [[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:''' === | ||
==== Familial pheochromocytoma ==== | |||
* is an autosomal dominant disorder characterized by skull, neck, thorax, abdomen and urinary bladder. They are associated with other syndromes named Multiple endocrien neoplasia (MEN2) Which are autosomal dominant syndromes controlled by RET gene. Pheochromocytoma occurs in 50% of patients with MEN2 as follows: | |||
{| class="wikitable" | {| class="wikitable" | ||
!MEN1 | !MEN1 | ||
| Line 28: | Line 31: | ||
|- | |- | ||
| rowspan="3" | | | rowspan="3" | | ||
* Medullary thyroid cancer | * [[Medullary thyroid cancer]] | ||
* Pheochromocytoma | * Pheochromocytoma | ||
* Primary hyperparathyroidism | * [[Primary hyperparathyroidism]] | ||
| | | | ||
* Medullary thyroid cancer | * [[Medullary thyroid cancer]] | ||
* Pheochromocytoma | * Pheochromocytoma | ||
* Mucosal neuromas | * [[Neuroma|Mucosal neuromas]] | ||
* Marfanoid habitus | * [[Marfan's syndrome|Marfanoid habitus]] | ||
|} | |} | ||
* | ==== Non-familial pheochromocytoma: ==== | ||
* | 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 [GIST] | ||
* | * Paraganglioma | ||
Sporadic''''':''''' Most catecholamine-secreting tumors are sporadic.Mutations were identified in most of 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> | * Adrenal cortical adenoma | ||
==== Sporadic''''':''''' ==== | |||
Most catecholamine-secreting tumors are sporadic.Mutations were identified in most of 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> | |||
=== 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''' :''' === | ||
{| class="wikitable" | {| class="wikitable" | ||
!Cluster 1 | !Cluster 1 | ||
| Line 52: | Line 57: | ||
|- | |- | ||
! | ! | ||
* '''Noradrenergic''' | |||
* Succinate dehydrogenase (SDH) subunit genes | * Succinate dehydrogenase (SDH) subunit genes | ||
* Von Hippel-Lindau (VHL) disease | * Von Hippel-Lindau (VHL) disease | ||
* Fumarate hydratase gene mutations | * Fumarate hydratase gene mutations | ||
| | | | ||
* '''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''' | ||
Revision as of 15:13, 10 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]
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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 tumours share the same biochemical and histological characters, the only difference is the ability of the malignant tumor to invade local and distant tissues.(WHO Classification of Tumours, DeLellis RA, Lloyd RV, Heitz PU, Eng C. (Eds), IARC press, Lyon, France 2004)
- Most cases need 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 intraadrenal and 5 to 10 percent are multiple, 10% are extraadrenal 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 endocrien neoplasia (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:
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 [GIST]
- Paraganglioma
- Adrenal cortical adenoma
Sporadic:
Most catecholamine-secreting tumors are sporadic.Mutations were identified in most of 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 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.