Multiple endocrine neoplasia type 2 differential diagnosis
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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 2 must be differentiated from other hereditary tumors such as medullary thyroid carcinoma, C-cell hyperplasia, pheochromocytoma, von Hippel Lindau syndrome, hereditary paraganglioma-pheochromocytoma, polycythemia and paraganglioma/pheochromocytoma syndrome, neurofibromatosis type 1, and multiple endocrine neoplasia type 1 (MEN 1).
Differential Diagnosis
Multiple endocrine neoplasia type 2 must be differentiated from the following diseases.[1]
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 Two or more specific endocrine tumors
| ||
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[2] |
References
- ↑ Toledo, SP; Lourenco Jr, DM; Toledo, RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics. 68 (7): 1039–1056. doi:10.6061/clinics/2013(07)24. ISSN 1807-5932.
- ↑ 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.