Multiple endocrine neoplasia type 1 differential diagnosis
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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
Multiple endocrine neoplasia type 1 must be differentiated from the hereditary diseases shown in the table below.
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 | p53
Retinoblastoma h19 insulin-like growth factor II (IGF-II) p57kip2 |
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[1] |
References
- ↑ 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.