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 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 following hereditary diseases.
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 |
VHL (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/[1] |
References
- ↑ Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 020301434.