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).

Differentiating Multiple endocrine neoplasia type 2 from other Diseases

Multiple endocrine neoplasia type 2 must be differentiated from the following hereditary diseases.

Disease	Definition
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/