Difference between revisions of "Multiple endocrine neoplasia"
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**Usually arise in the [[duodenum]]. | **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> | ||
*[[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=== | ||
Revision as of 07:07, 11 September 2018
Multiple endocrine neoplasia, abbreviated MEN, refers to collection of different genetic abnormalities that lead to endocrine neoplasms.
Simple
MEN 1
Memory device: 3 Ps.
MEN 2A (II)
- Parathyroid adenoma.
- Medullary thyroid carcinoma (usually preceded by C-cell hyperplasia[2]).
- 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[2]).
- Pheochromocytoma.
Details
MEN 1
Gene:
- MEN1.[1]
Characteristics:[2]
- 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.[3]
- DIPNECH has been described in the context of multiple endocrine neoplasia 1.[4]
MEN 2A
Gene:
- RET.[5]
Characteristics:[2]
- 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.[2]
MEN 2B
Gene:
- RET.[6]
Characteristics:
- Marfanoid habitus.[7]
- Neuromas.
- Multiple ganglioneuromas (ganglioneuromatosis) of the alimentary tract.[6][8]
- Ganglion cells + spindle cells.[9]
Treatment:
- Patients are advised to have prophylactic thyroidectomy.
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 131100
- ↑ 2.0 2.1 2.2 2.3 2.4 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
- ↑ 6.0 6.1 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.