Synonym(s)
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
An autosomal-dominantly inherited clinical picture (OMIM 171400) belonging to the multiple endocrine neoplasias with a combination of pheochromocytoma (possibly bilateral), medullary thyroid carcinoma, and possibly parathyroid adenoma, cutaneous lichen amyloidosus (CLA) and Hirschsprung's disease.
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EtiopathogenesisThis section has been translated automatically.
Autosomal dominant inheritance; mutation of the RET prooncogene, a gene coding for a transmembrane tyrosine kinase, which is mapped on chromosome 10q11.2. The variant p.Val804Met (c2410G>A) is the most common variant in MEN2A with a moderate risk of MTC (medullary thyroid carcinoma) and a low risk of pheochromocytoma and hyperparathyroidism.
LiteratureThis section has been translated automatically.
Breza J Jr et al (2018) Multiple endocrine neoplasia 2A (MEN 2A) syndrome. Bratisl Lek Listy119:120-125.
Mathiesen JS et al (2022) Multiple endocrine neoplasia type 2: A review. Semin Cancer Biol 79:163-179
- Sipple JH (1961) The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 31: 163-166
- Verga U et al (2003) Frequent association between MEN 2A and cutaneous lichen amyloidosis. Clin Endocrinol (Oxf) 59: 156-161.
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Incoming links (6)
Familial cancer syndrome; Lichen amyloidosis; Men type iia; Multiple endocrine adenomatosis type iia; Multiple endocrine neoplasias; Ret oncogene;Outgoing links (6)
Lichen amyloidosis; Multiple endocrine neoplasias; Pheochromocytoma; Ret oncogene; Thyroid carcinomas; Tyrosine kinases;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer