Pheochromocytoma classification: Difference between revisions
Jump to navigation
Jump to search
Ifrah Fatima (talk | contribs) |
Ifrah Fatima (talk | contribs) |
||
| Line 8: | Line 8: | ||
* Nature of tumor | * Nature of tumor | ||
* Spread | * Spread | ||
* Biochemical secretory patterns | |||
* Genetics | * Genetics | ||
=== Classification based on nature of tumor: === | === Classification based on nature of tumor: === | ||
| Line 15: | Line 17: | ||
[[Malignant]] and [[benign]] [[Tumor|tumors]] share the same [[biochemical]] and [[histological]] characters. The only difference is the ability of the [[malignant]] [[tumor]] to [[metastasize]] to distant [[Tissue (biology)|tissues]] and have high rates of recurrence. | [[Malignant]] and [[benign]] [[Tumor|tumors]] share the same [[biochemical]] and [[histological]] characters. The only difference is the ability of the [[malignant]] [[tumor]] to [[metastasize]] to distant [[Tissue (biology)|tissues]] and have high rates of recurrence. | ||
* According to the WHO 2017 Classification of Tumors of Endocrine Organs, all parangangliomas have metastatic potential and hence the term "malignant" was replaced with "metastatic". | * According to the WHO 2017 Classification of Tumors of Endocrine Organs, all parangangliomas have metastatic potential and hence the term "malignant" was replaced with "metastatic". <ref name="pmidorcid.org/0000-0003-2771-564X">{{cite journal| author=Smith RJ, Bryant RG| title=Metal substitutions incarbonic anhydrase: a halide ion probe study. | journal=Biochem Biophys Res Commun | year= 1975 | volume= 66 | issue= 4 | pages= 1281-6 | pmid=orcid.org/0000-0003-2771-564X | doi=10.1016/0006-291x(75)90498-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3 }} </ref> | ||
=== '''Classification based on spread:''' === | === '''Classification based on spread:''' === | ||
| Line 29: | Line 31: | ||
** [[Thorax]] | ** [[Thorax]] | ||
** [[Liver]] | ** [[Liver]] | ||
===Biochemical secretory pattern=== | |||
Pheochromocytoma and paragangliomas (PPGL) can be classified based on the biochemical secretory pattern: <ref name="pmidorcid.org/0000-0003-2771-564X">{{cite journal| author=Smith RJ, Bryant RG| title=Metal substitutions incarbonic anhydrase: a halide ion probe study. | journal=Biochem Biophys Res Commun | year= 1975 | volume= 66 | issue= 4 | pages= 1281-6 | pmid=orcid.org/0000-0003-2771-564X | doi=10.1016/0006-291x(75)90498-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3 }} </ref> | |||
* Noradrenergic phenotype (predominant norepinephrine secreting)- associated with Von Hippel-Lindau syndrome | |||
* Adrenergic phenotype (predominant epinephrine secreting)- associated with MEN2 or neurofibromatosis type 1 (NF1) | |||
* Dopamine secreting- associated with SDHB, SDHD or SDHC mutations and potentially metastatic tumors. | |||
=== '''Classification based on genetics:''' === | === '''Classification based on genetics:''' === | ||
Revision as of 19:34, 24 July 2020
|
Pheochromocytoma Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Pheochromocytoma classification On the Web |
|
American Roentgen Ray Society Images of Pheochromocytoma classification |
|
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
Pheochromocytomas and paragangliomas (collectively referred to as PPGLs) are rare tumors that originate from chromaffin cells in the adrenal medulla (pheochromocytoma) or in the extra-adrenal neural ganglia (paraganglioma). These tumors can be either biochemically active (producing a catecholamine like epinephrine, nor-epinephrine and dopamine) or biochemically silent. PPGLs can be either sporadic or genetic, with association to several familial syndromes. PPGLs can also be classified according to their spread into local, regional, or metastatic. The defining characteristic of malignancy in PPGLs is the presence of metastasis.
Classification
Pheochromocytoma may be classified into several subtypes based on:
- Nature of tumor
- Spread
- Biochemical secretory patterns
- Genetics
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 metastasize to distant tissues and have high rates of recurrence.
- According to the WHO 2017 Classification of Tumors of Endocrine Organs, all parangangliomas have metastatic potential and hence the term "malignant" was replaced with "metastatic". [1]
Classification based on spread:
- Localized:
- 95% of pheochromocytomas are found in the abdomen
- 85 to 90 % are intra-adrenal
- 5 to 10% are multiple
- 15-20% of PPGLs are extra-adrenal (paragangliomas).
- Metastatic: Common sites of metastasis include:
Biochemical secretory pattern
Pheochromocytoma and paragangliomas (PPGL) can be classified based on the biochemical secretory pattern: [1]
- Noradrenergic phenotype (predominant norepinephrine secreting)- associated with Von Hippel-Lindau syndrome
- Adrenergic phenotype (predominant epinephrine secreting)- associated with MEN2 or neurofibromatosis type 1 (NF1)
- Dopamine secreting- associated with SDHB, SDHD or SDHC mutations and potentially metastatic tumors.
Classification based on genetics:
Familial pheochromocytoma
- Familial pheochromocytoma is associated with several hereditary disorders including Multiple Endocrine Neoplasia types 2A and 2B (MEN2) (caused by mutations of the RET gene), Von Hippel-Lindau (VHL) disease (caused by mutations of the VHL gene), familial paraganglioma of the neck (cause by mutations of the gene for succinate dehydrogenase subunit D (SDHD)) and neurofibromatosis type 1 (NF1).
Non-familial pheochromocytoma:
- Resulting from sporadic germ-line mutations, which have been documented in about 20% of cases.
- 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 have been identified in most of the sporadic cases.
- May be due to spontaneous mutation, decreased penetrance or maternal imprinting.[2]
- 50% of patients had a pathogenic mutation in SDHB, SDHD, or VHL.[3]
References
- ↑ 1.0 1.1 Smith RJ, Bryant RG (1975). "Metal substitutions incarbonic anhydrase: a halide ion probe study". Biochem Biophys Res Commun. 66 (4): 1281–6. doi:10.1016/0006-291x(75)90498-2. PMID orcid.org/0000-0003-2771-564X Check
|pmid=value (help). - ↑ 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.