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.<ref>Molecular genetics. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq</ref>
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==
Common causes of carcinoid syndrome include:<ref>Molecular genetics. National Cancer Institute. http://www.cancer.gov/types/gi-carcinoid-tumors/hp/gi-carcinoid-treatment-pdq</ref>
*Approximately 30-40% of patients with well-differentiated [[Neuroendocrine tumor|neuroendocrine tumors]] present with [[Carcinoid Syndrome|carcinoid syndrome]].
*Genetic disorders
*[[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]]
**[[Multiple endocrine neoplasia type 1]]
* [[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>
**[[Neurofibromatosis type 1]]
* 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>
**Carcinoids associated with [[multiple endocrine neoplasia type 1]] appear to be of [[foregut]] origin.
*'''[[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>
** Carcinoids in patients with [[neurofibromatosis type 1]] appear to arise primarily in the periampullary region.
<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>
*Genetic mutations
 
**Gains involving chromosomes 5, 14, 17, and 19
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center"
**Losses involving chromosomes 11 and 18
| 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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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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