Multiple endocrine neoplasia type 2 differential diagnosis
Multiple endocrine neoplasia type 2 Microchapters |
Differentiating Multiple endocrine neoplasia type 2 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 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 hereditary diseases.[1]
Disease | Definition |
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Medullary thyroid carcinoma | Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the parafollicular cells (C cells), which produce the hormone calcitonin. |
C-cell hyperplasia | It is a genetic condition that causes proliferation of C cells of parathyroid gland. |
Pheochromocytoma | A neuroendocrine tumor of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue that failed to involute after birth. |
von Hippel Lindau syndrome | An autosomal dominant genetic disorder causing abnormal growth of blood vessels in different parts of the body. |
Hereditary paraganglioma-pheochromocytoma syndrome | A genetic disorder causing abnormal growth of ganglions along with tumor of the medulla of adrenal gland. |
Polycythemia and paraganglioma/pheochromocytoma | A genetic disorder causing abnormal growth of ganglions and RBC cells. |
Neurofibromatosis type 1 | Neurofibromatosis type I is a tumor disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division causing tumors along the nervous system. Common symptoms of neurofibromatosis type I include scoliosis (curvature of the spine), learning disabilities, vision disorders, and epilepsy. |
Multiple endocrine neoplasia type 1 (MEN 1) | An autosomal dominant genetic disorder causing tumors of parathyroid, pancreas, and pituitary gland. |
Adapted from Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/[2] |
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[3] |
References
- ↑ Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 20301434.
- ↑ Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 20301434.
- ↑ 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.