Difference between revisions of "Multiple endocrine neoplasia"

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'''Multiple endocrine neoplasia''', abbreviated ''MEN'', refers to collection of different genetic abnormalities that lead to endocrine neoplasms.
[[Image:C-cell hyperplasia in MEN 2 -- low mag.jpg|thumb|right|350px|[[C-cell hyperplasia]], as may be seen in the context of MEN 2A or MEN 2B. [[H&E stain]].]]
'''Multiple endocrine neoplasia''', abbreviated '''MEN''', refers to collection of different genetic abnormalities that lead to endocrine neoplasms.


==Simple==
==Simple==
===MEN 1===
===MEN 1===
* Parathyroid adenoma.<ref>URL: [http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970475-2 http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970475-2]. Accessed on: 2 September 2010.</ref>
* [[Parathyroid adenoma]].<ref name=omim131100>{{OMIM|131100}}</ref> ‡
* [[Pancreas|Pancreatic]] neuroendocrine tumours.
* [[Pancreatic neuroendocrine tumour]]s.
* [[Pituitary]] adenoma.  
* [[Pituitary adenoma]].  


Memory device: '''3 Ps'''.
Memory device: '''3 Ps'''.


===MEN 2A/2B (II/III)===
Note:<br>
* Parathyroid adenoma.
‡ May be mislabeled as ''[[parathyroid hyperplasia]]''.<ref name=pmid15490065>{{cite journal |authors=Doherty GM, Lairmore TC, DeBenedetti MK |title=Multiple endocrine neoplasia type 1 parathyroid adenoma development over time |journal=World J Surg |volume=28 |issue=11 |pages=1139–42 |date=November 2004 |pmid=15490065 |doi=10.1007/s00268-004-7560-8 |url=}}</ref>
* [[Medullary thyroid carcinoma]] (usu. preceded by C cell hyperplasia<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>).
 
===MEN 2A (II)===
* [[Parathyroid adenoma]].
* [[Medullary thyroid carcinoma]] (usually preceded by [[C-cell hyperplasia]]<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>).
* [[Pheochromocytoma]].  
* [[Pheochromocytoma]].  


Notes:
Notes - memory device:
*BOTH have parathyroid adenoma.
*Both MEN 1 and MEN 2A have parathyroid adenomas.
*EACH has one below and one above the diaphragm.
*Each has additional neoplasms below ''and'' above the diaphragm.
 
===MEN 2B (III)===
* Neuromas/[[ganglioneuroma]]s.
* [[Medullary thyroid carcinoma]] (usually preceded by C cell hyperplasia<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>).
* [[Pheochromocytoma]].


==Details==
==Details==
===MEN 1===
Gene:
*MEN1.<ref name=omim131100>{{OMIM|131100}}</ref>
Characteristics:<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>
*Endocrine tumours usually lead to most of the morbidity.
**Usually arise in the [[duodenum]].
**May present as [[Zollinger-Ellison syndrome]] - triad of pancreatic gastrinoma, gastric hypersecretion, small bowel peptic ulcers.<ref name=pmid13259432>{{cite journal |author=Zollinger RM, Ellison EH |title=Primary peptic ulcerations of the jejunum associated with islet cell tumors of the pancreas |journal=Ann. Surg. |volume=142 |issue=4 |pages=709–23; discussion, 724–8 |year=1955 |pmid=13259432|doi=10.1097/00000658-195510000-00015 |PMC = 1465210 |URL = http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465210/?page=1 }}</ref>
*[[Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia]] (DIPNECH) has been described in the context of ''multiple endocrine neoplasia 1''.<ref name=pmid17099078>{{Cite journal  | last1 = Davies | first1 = SJ. | last2 = Gosney | first2 = JR. | last3 = Hansell | first3 = DM. | last4 = Wells | first4 = AU. | last5 = du Bois | first5 = RM. | last6 = Burke | first6 = MM. | last7 = Sheppard | first7 = MN. | last8 = Nicholson | first8 = AG. | title = Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia: an under-recognised spectrum of disease. | journal = Thorax | volume = 62 | issue = 3 | pages = 248-52 | month = Mar | year = 2007 | doi = 10.1136/thx.2006.063065 | PMID = 17099078 }}</ref>
===MEN 2A===
===MEN 2A===
*Ganglioneuromatosis of the alimentary tract.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/162300 http://www.ncbi.nlm.nih.gov/omim/162300]. Accessed on: 19 November 2010.</ref><ref name=pmid17306015>{{cite journal |author=Haraguchi M, Kinoshita H, Koori M, ''et al.'' |title=Multiple rectal carcinoids with diffuse ganglioneuromatosis |journal=World J Surg Oncol |volume=5 |issue= |pages=19 |year=2007 |pmid=17306015 |pmc=1805501 |doi=10.1186/1477-7819-5-19 |url=}}</ref>
Gene:
**Extra large nerves in GI tract.
*RET.<ref name=omim171400>{{OMIM|171400}}</ref>
 
Characteristics:<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>
*Medullary [[thyroid]] carcinoma - in almost 100%.
 
Treatment:
*Patients are advised to have prophylactic thyroidectomy.


Images:  
Images:  
*[http://wjso.com/content/5/1/19/figure/F3 Ganglioneuromatosis - crappy quality (wjso.com)].
*[http://wjso.com/content/5/1/19/figure/F3 Ganglioneuromatosis - crappy quality (wjso.com)].
Trivia:
*In MEN 2A and 2B the ''RET'' gene is abnormally activated.  In [[Hirschsprung disease]], it is inactivated.<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>


===MEN 2B===
===MEN 2B===
*Has a [[Marfan syndrome|marfanoid]] habitus.<ref name=Ref_PBoD8_1160>{{Ref PBoD8|1160}}}}</ref>
Gene:
*RET.<ref name=omim162300>{{OMIM|162300}}</ref>
 
Characteristics:
*[[Marfan syndrome|Marfanoid]] habitus.<ref name=Ref_PBoD8_1160>{{Ref PBoD8|1160}}</ref>
*[[Neuroma]]s.
*Multiple ganglioneuromas ([[ganglioneuromatosis]]) of the alimentary tract.<ref name=omim162300>{{OMIM|162300}}</ref><ref name=pmid17306015>{{cite journal |author=Haraguchi M, Kinoshita H, Koori M, ''et al.'' |title=Multiple rectal carcinoids with diffuse ganglioneuromatosis |journal=World J Surg Oncol |volume=5 |issue= |pages=19 |year=2007 |pmid=17306015 |pmc=1805501 |doi=10.1186/1477-7819-5-19 |url=}}</ref>
**Ganglion cells + spindle cells.<ref>{{Ref GLP|215}}</ref>
 
Treatment:
*Patients are advised to have prophylactic thyroidectomy.


==References==
==References==

Latest revision as of 21:18, 6 April 2022

C-cell hyperplasia, as may be seen in the context of MEN 2A or MEN 2B. H&E stain.

Multiple endocrine neoplasia, abbreviated MEN, refers to collection of different genetic abnormalities that lead to endocrine neoplasms.

Simple

MEN 1

Memory device: 3 Ps.

Note:
‡ May be mislabeled as parathyroid hyperplasia.[2]

MEN 2A (II)

Notes - memory device:

  • Both MEN 1 and MEN 2A have parathyroid adenomas.
  • Each has additional neoplasms below and above the diaphragm.

MEN 2B (III)

Details

MEN 1

Gene:

Characteristics:[3]

MEN 2A

Gene:

Characteristics:[3]

  • Medullary thyroid carcinoma - in almost 100%.

Treatment:

  • Patients are advised to have prophylactic thyroidectomy.

Images:

Trivia:

MEN 2B

Gene:

Characteristics:

Treatment:

  • Patients are advised to have prophylactic thyroidectomy.

References

  1. ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 131100
  2. ↑ Doherty GM, Lairmore TC, DeBenedetti MK (November 2004). "Multiple endocrine neoplasia type 1 parathyroid adenoma development over time". World J Surg 28 (11): 1139–42. doi:10.1007/s00268-004-7560-8. PMID 15490065.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1162. ISBN 978-1416031215. }}
  4. ↑ Zollinger RM, Ellison EH (1955). "Primary peptic ulcerations of the jejunum associated with islet cell tumors of the pancreas". Ann. Surg. 142 (4): 709–23; discussion, 724–8. doi:10.1097/00000658-195510000-00015. PMC 1465210. PMID 13259432. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465210/.
  5. ↑ Davies, SJ.; Gosney, JR.; Hansell, DM.; Wells, AU.; du Bois, RM.; Burke, MM.; Sheppard, MN.; Nicholson, AG. (Mar 2007). "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia: an under-recognised spectrum of disease.". Thorax 62 (3): 248-52. doi:10.1136/thx.2006.063065. PMID 17099078.
  6. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 171400
  7. ↑ 7.0 7.1 Online 'Mendelian Inheritance in Man' (OMIM) 162300
  8. ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1160. ISBN 978-1416031215.
  9. ↑ Haraguchi M, Kinoshita H, Koori M, et al. (2007). "Multiple rectal carcinoids with diffuse ganglioneuromatosis". World J Surg Oncol 5: 19. doi:10.1186/1477-7819-5-19. PMC 1805501. PMID 17306015. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805501/.
  10. ↑ Iacobuzio-Donahue, Christine A.; Montgomery, Elizabeth A. (2005). Gastrointestinal and Liver Pathology: A Volume in the Foundations in Diagnostic Pathology Series (1st ed.). Churchill Livingstone. pp. 215. ISBN 978-0443066573.
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