Carcinoid syndrome causes: Difference between revisions

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{{Carcinoid syndrome}}
{{Carcinoid syndrome}}
{{CMG}}{{AE}}{{PSD}}
{{CMG}}{{AE}}{{PSD}}
==Overview==
==Overview==
Majority of the cases of gastrointestinal carcinoid are sporadic, however gastrointestinal carcinoid is associated with mutations in ''MEN1'' and ''NF1'' genes.
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==
*Occasionally, gastrointestinal carcinoids occur in association with inherited syndromes, such as [[multiple endocrine neoplasia type 1]] and [[neurofibromatosis type 1]].<ref> Molecular genetics
*Approximately 30-40% of patients with well-differentiated [[Neuroendocrine tumor|neuroendocrine tumors]] present with [[Carcinoid Syndrome|carcinoid syndrome]].
. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq Accessed on September 22, 2015</ref>
*[[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]]
:*Most carcinoids associated with [[multiple endocrine neoplasia type 1]] appear to be of foregut origin.
* [[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>
:* Carcinoids in patients with [[neurofibromatosis type 1]] appear to arise primarily in the periampullary region.
* 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>
*In sporadic gastrointestinal carcinoids, numerous chromosomal imbalances have been found by comparative genome hybridization analysis. Gains involving chromosomes 5, 14, 17 (especially 17q), and 19 and losses involving chromosomes 11 (especially 11q) and 18 appear to be the most common.
*'''[[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"
| valign="top" |
|+
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Genetic Disorder}}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Tumor Location}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
[[Multiple endocrine neoplasia type 1]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Carcinoid|Carcinoids]] associated with [[multiple endocrine neoplasia type 1]] appear to be of [[foregut]] origin
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
[[Neurofibromatosis type 1]]
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[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"
| valign="top" |
|+
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Type of Mutation}}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Chromosomes}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
Gains
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Chromosome]] 5  
*[[Chromosome]] 14  
*[[Chromosome]] 17
*[[Chromosome]] 19
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
Losses
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Chromosome]] 11
*[[Chromosome]] 18
|}


==References==
==References==
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[[Category:Disease]]
[[Category:Gastroenterology]]
[[Category:Types of cancer]]
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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

[4][5]

Genetic Disorder Tumor Location

Multiple endocrine neoplasia type 1

Neurofibromatosis type 1

Type of Mutation Chromosomes

Gains

Losses

References

  1. 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.
  2. Molecular genetics. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq
  3. "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.
  4. 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.
  5. 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.

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