Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions
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* [[Scoliosis]] | * [[Scoliosis]] | ||
* Learning disabilities | * Learning disabilities | ||
* [[ | * [[Vision]] disorders | ||
* Cutaneous [[lesion]]s | * Cutaneous [[lesion]]s | ||
* [[Epilepsy]]. | * [[Epilepsy]]. | ||
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* [[ | * [[Medullary thyroid carcinoma]] (MTC) | ||
* [[ | * [[Pheochromocytoma]] | ||
* Primary [[hyperparathyroidism]] | * Primary [[hyperparathyroidism]] | ||
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'''<u>Criteria</u>''' | '''<u>Criteria</u>''' | ||
Two or more specific endocrine tumors | Two or more specific endocrine tumors | ||
* [[ | * [[Medullary thyroid carcinoma]] | ||
* [[ | * [[Pheochromocytoma]] | ||
* [[ | * [[Parathyroid]] hyperplasia | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]] | ||
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* [[ | * [[Visual field defect]]s classically [[bitemporal hemianopsia]] | ||
* Increased [[intracranial pressure]] | * Increased [[intracranial pressure]] | ||
* [[Migraine]] | * [[Migraine]] | ||
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by | ||
* Episodic [[hypertension]] | * Episodic [[hypertension]] | ||
* [[ | * [[Palpitation]]s | ||
* [[ | * [[Anxiety]] | ||
* [[ | * [[Diaphoresis]] | ||
* [[ | * [[Weight loss]] | ||
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Revision as of 17:23, 17 October 2017
Multiple endocrine neoplasia type 1 Microchapters |
Differentiating Multiple endocrine neoplasia type 1 from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Multiple endocrine neoplasia type 1 must be differentiated from other hereditary diseases 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 | Von Hippel–Lindau tumor suppressor | 3p25.3 |
|
- | - | + |
|
Carney complex | PRKAR1A | 17q23-q24 |
|
- | - | - |
|
Neurofibromatosis type 1 | RAS | 17 | - | - | - | Prenatal
Postnatal Cardinal Clinical Features" are required for positive diagnosis.
| |
Li-Fraumeni syndrome | TP53 | 17 | Early onset of diverse amount of cancers such as | - | - | - |
Criteria
|
Gardner's syndrome | APC | 5q21 |
|
- | - | - |
|
Multiple endocrine neoplasia type 2 | RET | - |
|
+ | - | - |
Criteria Two or more specific endocrine tumors
|
Cowden syndrome | PTEN | - | Hamartomas | - | - | - |
|
Acromegaly/gigantism | - | - |
|
- | + | - |
|
Pituitary adenoma | - | - |
|
- | + | - |
|
Hyperparathyroidism | - | - | - | + | - | - |
|
Pheochromocytoma/paraganglioma |
VHL RET NF1 SDHB SDHD |
- | 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.