Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Multiple_endocrine_neoplasia_type_1]] | |||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} {{ADG}} | ||
==Overview== | ==Overview== | ||
Multiple endocrine neoplasia type 1 must be differentiated from other | Multiple endocrine neoplasia type 1 must be differentiated from other diseases with similar presentation such as [[von Hippel-Lindau syndrome]], [[tuberous sclerosis]], [[carney complex]], [[neurofibromatosis type 1]], [[Li-Fraumeni syndrome]], [[multiple endocrine neoplasia type 2]], [[familial hyperparathyroidism]], [[pheochromocytoma]], and [[acromegaly]]. | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
The table below summarizes the findings that differentiate | The table below summarizes the findings that differentiate multiple endocrine neoplasia type 1 from other conditions with similar presentations: <ref name="pmid10496602">{{cite journal| author=Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS et al.| title=Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. | journal=Mod Pathol | year= 1999 | volume= 12 | issue= 9 | pages= 919-24 | pmid=10496602 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10496602 }} </ref><ref name="pmid28940393">{{cite journal| author=Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J et al.| title=Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. | journal=Clin Endocrinol (Oxf) | year= 2017 | volume= | issue= | pages= | pmid=28940393 | doi=10.1111/cen.13480 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28940393 }} </ref><ref name="pmid19904212">{{cite journal| author=Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T et al.| title=Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. | journal=Genet Med | year= 2009 | volume= 11 | issue= 12 | pages= 825-35 | pmid=19904212 | doi=10.1097/GIM.0b013e3181be5c97 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19904212 }} </ref> | ||
{| style="border: 0px; font-size: 85%; margin: 3px; width: 600px" align="center" | {| style="border: 0px; font-size: 85%; margin: 3px; width: 600px" align="center" | ||
|+ | |+ | ||
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* [[Pancreatic cyst|Pancreatic cysts]] (pancreatic serous cystadenoma) | * [[Pancreatic cyst|Pancreatic cysts]] (pancreatic serous cystadenoma) | ||
* [[Endolymphatic sac tumor]] | * [[Endolymphatic sac tumor]] | ||
* Bilateral papillary cystadenomas of | * Bilateral papillary cystadenomas of the [[epididymis]] (men) or [[broad ligament of the uterus]] (women) | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
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* Elevated [[parathyroid hormone]], | * Elevated [[parathyroid hormone]], | ||
* Elevated [[norepinephrine]] | * Elevated [[norepinephrine]] | ||
'''<u>Criteria</u>''' | '''<u>Criteria</u>''' | ||
Two or more specific endocrine tumors | * Two or more specific endocrine tumors | ||
* [[Medullary thyroid carcinoma]] | * [[Medullary thyroid carcinoma]] | ||
* [[Pheochromocytoma]] | * [[Pheochromocytoma]] | ||
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
: | :Elevated serum level of [[prolactin]] Elevated or decreased serum level of [[adrenocorticotropic hormone]] (ACTH) Elevated or decreased serum level of [[growth hormone]] (GH) Elevated or decreased serum level of [[thyroid-stimulating hormone]] (TSH) Elevated or decreased serum level of [[follicle-stimulating hormone]] (FSH) Elevated or decreased serum level of [[luteinizing hormone]] (LH) | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]] | ||
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| colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672 }} </ref> </small> | | colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672 }} </ref> </small> | ||
|} | |} | ||
==References== | ==References== | ||
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{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
[[Category:Up-To-Date]] | |||
[[Category:Oncology]] | |||
[[Category:Medicine]] | |||
[[Category:Endocrinology]] | |||
[[Category:Surgery]] |
Latest revision as of 04:21, 6 July 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2] Aditya Ganti M.B.B.S. [3]
Overview
Multiple endocrine neoplasia type 1 must be differentiated from other diseases with similar presentation such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma, and acromegaly.
Differential Diagnosis
The table below summarizes the findings that differentiate multiple endocrine neoplasia type 1 from other conditions with similar presentations: [1][2][3]
Disease | Gene | Chromosome | Differentiating Features | Components of MEN | Diagnosis | ||
---|---|---|---|---|---|---|---|
Parathyroid | Pitutary | Pancreas | |||||
von Hippel-Lindau syndrome | 3p25.3 |
|
- | - | + |
| |
Carney complex | 17q23-q24 |
|
- | - | - |
| |
Neurofibromatosis type 1 | 17 | - | - | - | Prenatal
Postnatal Cardinal Clinical Features" are required for positive diagnosis.
| ||
Li-Fraumeni syndrome | 17 | Early onset of diverse amount of cancers such as | - | - | - |
Criteria | |
Gardner's syndrome | 5q21 |
|
- | - | - |
| |
Multiple endocrine neoplasia type 2 | - | + | - | - |
Criteria
| ||
Cowden syndrome | - | - | - | - |
| ||
Acromegaly/gigantism | - | - |
|
- | + | - |
|
Pituitary adenoma | - | - | - | + | - |
| |
Hyperparathyroidism | - | - | + | - | - |
| |
Pheochromocytoma/paraganglioma | - | Characterized by | - | - | - |
| |
Adrenocortical carcinoma |
|
17p, 13q |
|
- | - | - |
|
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013[4] |
References
- ↑ Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS; et al. (1999). "Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors". Mod Pathol. 12 (9): 919–24. PMID 10496602.
- ↑ Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J; et al. (2017). "Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis". Clin Endocrinol (Oxf). doi:10.1111/cen.13480. PMID 28940393.
- ↑ Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T; et al. (2009). "Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors". Genet Med. 11 (12): 825–35. doi:10.1097/GIM.0b013e3181be5c97. PMID 19904212.
- ↑ Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.