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 name=omim131100>{{OMIM|131100}}</ref> | * [[Parathyroid adenoma]].<ref name=omim131100>{{OMIM|131100}}</ref> ‡ | ||
* [[Pancreatic neuroendocrine tumour]]s. | * [[Pancreatic neuroendocrine tumour]]s. | ||
* [[Pituitary adenoma]]. | * [[Pituitary adenoma]]. | ||
Memory device: '''3 Ps'''. | Memory device: '''3 Ps'''. | ||
Note:<br> | |||
‡ 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> | |||
===MEN 2A (II)=== | ===MEN 2A (II)=== | ||
* [[Parathyroid adenoma]]. | * [[Parathyroid adenoma]]. | ||
* [[Medullary thyroid carcinoma]] ( | * [[Medullary thyroid carcinoma]] (usually preceded by [[C-cell hyperplasia]]<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>). | ||
* [[Pheochromocytoma]]. | * [[Pheochromocytoma]]. | ||
| Line 20: | Line 24: | ||
===MEN 2B (III)=== | ===MEN 2B (III)=== | ||
* Neuromas/[[ganglioneuroma]]s. | * Neuromas/[[ganglioneuroma]]s. | ||
* [[Medullary thyroid carcinoma]] ( | * [[Medullary thyroid carcinoma]] (usually preceded by C cell hyperplasia<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref>). | ||
* [[Pheochromocytoma]]. | * [[Pheochromocytoma]]. | ||
==Details== | ==Details== | ||
===MEN 1=== | ===MEN 1=== | ||
Gene: | |||
*MEN1.<ref name=omim131100>{{OMIM|131100}}</ref> | |||
Characteristics:<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref> | Characteristics:<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref> | ||
*Endocrine tumours | *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> | **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=== | ||
Gene: | |||
*RET.<ref name=omim171400>{{OMIM|171400}}</ref> | |||
Characteristics:<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref> | Characteristics:<ref name=Ref_PBoD8_1162>{{Ref PBoD8|1162}}}}</ref> | ||
*Medullary [[thyroid]] carcinoma - in almost 100%. | *Medullary [[thyroid]] carcinoma - in almost 100%. | ||
| Line 44: | Line 55: | ||
===MEN 2B=== | ===MEN 2B=== | ||
Gene: | |||
*RET.<ref name=omim162300>{{OMIM|162300}}</ref> | |||
Characteristics: | Characteristics: | ||
*[[Marfan syndrome|Marfanoid]] habitus.<ref name=Ref_PBoD8_1160>{{Ref PBoD8|1160 | *[[Marfan syndrome|Marfanoid]] habitus.<ref name=Ref_PBoD8_1160>{{Ref PBoD8|1160}}</ref> | ||
*[[Neuroma]]s. | *[[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> | *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> | ||
Latest revision as of 21:18, 6 April 2022
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)
- Parathyroid adenoma.
- Medullary thyroid carcinoma (usually preceded by C-cell hyperplasia[3]).
- 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/ganglioneuromas.
- Medullary thyroid carcinoma (usually preceded by C cell hyperplasia[3]).
- Pheochromocytoma.
Details
MEN 1
Gene:
- MEN1.[1]
Characteristics:[3]
- 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.[4]
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) has been described in the context of multiple endocrine neoplasia 1.[5]
MEN 2A
Gene:
- RET.[6]
Characteristics:[3]
- Medullary thyroid carcinoma - in almost 100%.
Treatment:
- Patients are advised to have prophylactic thyroidectomy.
Images:
Trivia:
- In MEN 2A and 2B the RET gene is abnormally activated. In Hirschsprung disease, it is inactivated.[3]
MEN 2B
Gene:
- RET.[7]
Characteristics:
- Marfanoid habitus.[8]
- Neuromas.
- Multiple ganglioneuromas (ganglioneuromatosis) of the alimentary tract.[7][9]
- Ganglion cells + spindle cells.[10]
Treatment:
- Patients are advised to have prophylactic thyroidectomy.
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 131100
- ↑ 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.
- ↑ 3.0 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. }}
- ↑ 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/.
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 171400
- ↑ 7.0 7.1 Online 'Mendelian Inheritance in Man' (OMIM) 162300
- ↑ 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.
- ↑ 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/.
- ↑ 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.