Carcinoid syndrome causes: Difference between revisions
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==Overview== | ==Overview== | ||
Common causes of carcinoid syndrome include genetic disorders ([[multiple endocrine neoplasia type 1]] and [[neurofibromatosis type 1]]) and genetic mutations (gains involving chromosomes 5, 14, 17, and 19 and losses involving chromosomes 11 and 18). | Common causes of [[Carcinoid Syndrome|carcinoid syndrome]] include [[genetic disorders]] ([[multiple endocrine neoplasia type 1]] and [[neurofibromatosis type 1]]) and [[genetic mutations]] (gains involving [[chromosomes]] 5, 14, 17, and 19 and losses involving [[chromosomes]] 11 and 18). | ||
==Causes== | ==Causes== | ||
*Approximately 30-40% of patients with well-differentiated neuroendocrine tumors present with carcinoid syndrome. | *Approximately 30-40% of patients with well-differentiated [[Neuroendocrine tumor|neuroendocrine tumors]] present with [[Carcinoid Syndrome|carcinoid syndrome]]. | ||
*Carcinoid syndrome is predominantly associated with neuroendocrine tumors (NETs) that arise from the midgut in the setting of extensive liver metastases | *[[Carcinoid Syndrome|Carcinoid syndrome]] is predominantly associated with [[Neuroendocrine tumor|neuroendocrine tumors (NETs)]] that arise from the [[midgut]] in the setting of extensive [[Liver (2)|liver]] [[metastases]] | ||
* Carcinoid syndrome may be present in patients with bronchial carcinoids.<ref name="pmid30133565">{{cite journal |vauthors=Rubin de Celis Ferrari AC, Glasberg J, Riechelmann RP |title=Carcinoid syndrome: update on the pathophysiology and treatment |journal=Clinics (Sao Paulo) |volume=73 |issue=suppl 1 |pages=e490s |date=August 2018 |pmid=30133565 |pmc=6096975 |doi=10.6061/clinics/2018/e490s |url=}}</ref> | * [[Carcinoid Syndrome|Carcinoid syndrome]] may be present in patients with [[bronchial]] [[Carcinoid|carcinoids]].<ref name="pmid30133565">{{cite journal |vauthors=Rubin de Celis Ferrari AC, Glasberg J, Riechelmann RP |title=Carcinoid syndrome: update on the pathophysiology and treatment |journal=Clinics (Sao Paulo) |volume=73 |issue=suppl 1 |pages=e490s |date=August 2018 |pmid=30133565 |pmc=6096975 |doi=10.6061/clinics/2018/e490s |url=}}</ref> | ||
* other common causes of carcinoid syndrome includes are mostly genetic:<ref name=aaa>Molecular genetics. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq</ref> | * other common causes of [[Carcinoid Syndrome|carcinoid syndrome]] includes are mostly [[genetic]]:<ref name="aaa">Molecular genetics. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq</ref> | ||
*'''Genetic disorders''' | *'''[[Genetic disorders]]'''<ref>{{cite journal|title=Duodenal Carcinoid Tumours, Phaeochromocytoma and Neurofibromatosis: Islet Cell Tumour, Phaeochromocytoma and the Von Hippel-Lindau Complex: Two Distinctive Neuroendocrine Syndromes|journal=QJM: An International Journal of Medicine|year=1987|issn=1460-2393|doi=10.1093/oxfordjournals.qjmed.a068147}}</ref> | ||
<ref name="JakobovitzNass1996">{{cite journal|last1=Jakobovitz|first1=O|last2=Nass|first2=D|last3=DeMarco|first3=L|last4=Barbosa|first4=A J|last5=Simoni|first5=F B|last6=Rechavi|first6=G|last7=Friedman|first7=E|title=Carcinoid tumors frequently display genetic abnormalities involving chromosome 11.|journal=The Journal of Clinical Endocrinology & Metabolism|volume=81|issue=9|year=1996|pages=3164–3167|issn=0021-972X|doi=10.1210/jcem.81.9.8784062}}</ref><ref name="pmid28965289">{{cite journal |vauthors=O'Shea T, Druce M |title=When should genetic testing be performed in patients with neuroendocrine tumours? |journal=Rev Endocr Metab Disord |volume=18 |issue=4 |pages=499–515 |date=December 2017 |pmid=28965289 |pmc=5849652 |doi=10.1007/s11154-017-9430-3 |url=}}</ref> | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align=center | {| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center" | ||
|valign=top| | | valign="top" | | ||
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! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Genetic Disorder}} | ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Genetic Disorder}} | ||
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[[Multiple endocrine neoplasia type 1]] | [[Multiple endocrine neoplasia type 1]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Carcinoids associated with [[multiple endocrine neoplasia type 1]] appear to be of [[foregut]] origin | *[[Carcinoid|Carcinoids]] associated with [[multiple endocrine neoplasia type 1]] appear to be of [[foregut]] origin | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" | | ||
[[Neurofibromatosis type 1]] | [[Neurofibromatosis type 1]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Carcinoids in patients with [[neurofibromatosis type 1]] appear to arise primarily in the periampullary region | *[[Carcinoid|Carcinoids]] in patients with [[neurofibromatosis type 1]] appear to arise primarily in the [[periampullary]] region | ||
|} | |} | ||
*'''[[Genetic mutations]]''' | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center" | |||
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! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Type of Mutation}} | ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Type of Mutation}} | ||
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Gains | Gains | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Chromosome 5 | *[[Chromosome]] 5 | ||
*Chromosome 14 | *[[Chromosome]] 14 | ||
*Chromosome 17 | *[[Chromosome]] 17 | ||
*Chromosome 19 | *[[Chromosome]] 19 | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" | | ||
Losses | Losses | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Chromosome 11 | *[[Chromosome]] 11 | ||
*Chromosome 18 | *[[Chromosome]] 18 | ||
|} | |} | ||
Latest revision as of 16:17, 23 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Parminder Dhingra, M.D. [2]
Overview
Common causes of carcinoid syndrome include genetic disorders (multiple endocrine neoplasia type 1 and neurofibromatosis type 1) and genetic mutations (gains involving chromosomes 5, 14, 17, and 19 and losses involving chromosomes 11 and 18).
Causes
- Approximately 30-40% of patients with well-differentiated neuroendocrine tumors present with carcinoid syndrome.
- Carcinoid syndrome is predominantly associated with neuroendocrine tumors (NETs) that arise from the midgut in the setting of extensive liver metastases
- Carcinoid syndrome may be present in patients with bronchial carcinoids.[1]
- other common causes of carcinoid syndrome includes are mostly genetic:[2]
- Genetic disorders[3]
| Genetic Disorder | Tumor Location |
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| Type of Mutation | Chromosomes |
|---|---|
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Gains |
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Losses |
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References
- ↑ Rubin de Celis Ferrari AC, Glasberg J, Riechelmann RP (August 2018). "Carcinoid syndrome: update on the pathophysiology and treatment". Clinics (Sao Paulo). 73 (suppl 1): e490s. doi:10.6061/clinics/2018/e490s. PMC 6096975. PMID 30133565.
- ↑ Molecular genetics. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq
- ↑ "Duodenal Carcinoid Tumours, Phaeochromocytoma and Neurofibromatosis: Islet Cell Tumour, Phaeochromocytoma and the Von Hippel-Lindau Complex: Two Distinctive Neuroendocrine Syndromes". QJM: An International Journal of Medicine. 1987. doi:10.1093/oxfordjournals.qjmed.a068147. ISSN 1460-2393.
- ↑ Jakobovitz, O; Nass, D; DeMarco, L; Barbosa, A J; Simoni, F B; Rechavi, G; Friedman, E (1996). "Carcinoid tumors frequently display genetic abnormalities involving chromosome 11". The Journal of Clinical Endocrinology & Metabolism. 81 (9): 3164–3167. doi:10.1210/jcem.81.9.8784062. ISSN 0021-972X.
- ↑ O'Shea T, Druce M (December 2017). "When should genetic testing be performed in patients with neuroendocrine tumours?". Rev Endocr Metab Disord. 18 (4): 499–515. doi:10.1007/s11154-017-9430-3. PMC 5849652. PMID 28965289.