Pheochromocytoma classification: Difference between revisions
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==== Familial pheochromocytoma ==== | ==== Familial pheochromocytoma ==== | ||
* Familial pheochromocytoma is associated with [[Multiple endocrine neoplasia type 1|multiple endocrine neoplasia 1]] ([[Multiple endocrine neoplasia type 1|MEN1]]) and [[MEN, type 2|multiple endocrine neoplasia 2]] ([[Multiple endocrine neoplasia type 2|MEN2]]), which are [[Autosomal dominant inheritance|autosomal dominant]] syndromes, caused by a mutation in the menin and [[RET gene|RET genes]], respectively. Pheochromocytoma occurs in 50% of patients with [[Multiple endocrine neoplasia type 2|MEN2]] | * Familial pheochromocytoma is associated with [[Multiple endocrine neoplasia type 1|multiple endocrine neoplasia 1]] ([[Multiple endocrine neoplasia type 1|MEN1]]) and [[MEN, type 2|multiple endocrine neoplasia 2]]B ([[Multiple endocrine neoplasia type 2|MEN2]]B), which are [[Autosomal dominant inheritance|autosomal dominant]] syndromes, caused by a mutation in the menin and [[RET gene|RET genes]], respectively. Pheochromocytoma occurs in 50% of patients with [[Multiple endocrine neoplasia type 2|MEN2B]]. | ||
* The [[Multiple endocrine neoplasia type 1|MEN1]] and [[Multiple endocrine neoplasia type 2|MEN2]]B syndromes consist of the following features: | |||
{| class="wikitable" | {| class="wikitable" | ||
!MEN1 | !MEN1 | ||
|''' | |'''MEN2B''' | ||
|- | |- | ||
| rowspan="3" | | | rowspan="3" | | ||
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==== Non-familial pheochromocytoma: ==== | ==== Non-familial pheochromocytoma: ==== | ||
* The majority of them are positive for [[C-kit|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]] | * [[Renal artery stenosis]] | ||
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==== Sporadic''''':''''' ==== | ==== Sporadic''''':''''' ==== | ||
Most [[ | Most [[catecholamine]]-secreting tumors are sporadic. [[Mutation|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''':''' === | ||
Revision as of 15:24, 15 August 2017
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Pheochromocytoma classification On the Web |
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Risk calculators and risk factors for Pheochromocytoma classification |
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 may be classified based on nature of the tumor into benign and malignant. It can also be classified based on spread into local, regional, and metastatic.Another classification based on origin, divides pheochromocytoma into familial, non-familial and sporadic forms.
Classification
Classification based on nature of tumor:
- 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 tumors.[1]
- Most cases need follow up for a long duration.
Classification based on spread:
- Localized:
- 95% of pheochromocytomas are found in the abdomen
- 85 to 90 % are intra-adrenal
- 5 to 10 percent are multiple
- 10% are extra-adrenal and are referred to as catecholamine-secreting paragangliomas.
- Regional
- Metastatic:
Classification based on genetics:
Familial pheochromocytoma
- Familial pheochromocytoma is associated with multiple endocrine neoplasia 1 (MEN1) and multiple endocrine neoplasia 2B (MEN2B), which are autosomal dominant syndromes, caused by a mutation in the menin and RET genes, respectively. Pheochromocytoma occurs in 50% of patients with MEN2B.
- The MEN1 and MEN2B syndromes consist of the following features:
| MEN1 | MEN2B |
|---|---|
|
|
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:
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.[2] 50% of patients had a pathogenic mutation in SDHB, SDHD, or VHL.[3]
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
- ↑ Travis WD, Brambilla E, Nicholson AG, Yatabe Y, Austin JH, Beasley MB; et al. (2015). "The 2015 World Health Organization Classification of Lung Tumors: Impact of Genetic, Clinical and Radiologic Advances Since the 2004 Classification". J Thorac Oncol. 10 (9): 1243–60. doi:10.1097/JTO.0000000000000630. PMID 26291008.
- ↑ 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.