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 - - -
  • Clinical diagnosis
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

  • Sarcoma at a young age (below 45)
  • A first-degree relative diagnosed with any cancer at a young age (below 45)
  • A first or second degree relative with any cancer diagnosed before age 60.
Gardner's syndrome  5q21 - - -
Multiple endocrine neoplasia type 2 - + - -

Criteria Two or more specific endocrine tumors

Cowden syndrome - - - -
  • PTEN mutation probability risk calculator
Acromegaly/gigantism - - - + -
Pituitary adenoma - - - + -
Hyperparathyroidism - - + - -
  • An elevated concentration of serum calcium with elevated parathyroid hormone level is diagnostic of primary hyperparathyroidism.
  • Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum parathyroid hormone level and low to normal serum calcium.
  • An elevated concentration of serum calcium with elevated parathyroid hormone level in post renal transplant patients is diagnostic of tertiary hyperparathyoidism.
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

  1. 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.
  2. 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.


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