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 I===
===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 IIa/IIb (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]].
* Pheochromocytoma.  


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