Multiple endocrine neoplasiasD44.8
Synonym(s)
DefinitionThis section has been translated automatically.
Hereditary disorder with multiple occurrences of different endocrine active adenomas (apudomas) originating from the apud cells and their inadequately increased hormone production. At least 3 different clinical syndromes are described:
- Multiple endocrine neoplasia 1 (MEN 1/Wermer syndrome)
- Multiple endocrineneoplasia 2A (MEN 2A/ Sipple syndrome)
- Multiple endocrine neoplasia3(MEN 3 -formerly known as MEN 2b or Gorlin syndrome)
- Multiple endocrineneoplasia 4 (MEN 4): Few cases described to date. Primary hyperparathyroidism (80%), pituitary adenomas (40%), rarely other tumors.
EtiopathogenesisThis section has been translated automatically.
Autosomal dominant inheritance of genetic defects with alterations of proto-oncogenes and tumor suppressor genes:
The gene for MEN 1(MEN1 gene)has been localized on chromosome 11 in region 11q13.
The gene for MEN 2a has been localized on chromosome 10q11(RET proto-oncogene) (for the gene for MEN 2a it has been shown that different phenotypes occur depending on the localization of the mutations of the RET gene).
The gene for autosomal dominant MEN 3 syndrome(PTCH1 gene) is localized on chromosome 9q22.3.
The gene for MEN 4 in MEN is the MEN-1 gene, which is located on chromosome 11q13.
Note(s)This section has been translated automatically.
If the presence of "multiple endocrine neoplasia" is suspected, always arrange for family examinations.
LiteratureThis section has been translated automatically.
- Doherty GM et al (2003) Multiple endocrine neoplasia type 1: duodenopancreatic tumours. J Internal Med 253: 590-598
- Gagel RF (1994) Multiple Endocrine Neoplasia. Endocrinology and Metabolism Clinics of North America 23: 1-233
- Gorlin RJ, Sedano HO, Vickers RA, Cervenka J (1968) Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid: A syndrome. Cancer 22: 293-299
- Knudson AG (1993) Antioncogenes and human cancer. Proc Natl Acad Sci USA 90: 10914-10921
- Mulligan LM, Eng C, Healey CS et al (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genetics 6: 70-74
- Schimke RN, Hartman WH, Prout TE et al (1968) Syndromes of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med 279: 1-7
- Verga U et al (2002) Cutaneous lichen amyloidosis in multiple endocrine neoplasia type 2A. thyroid 12: 1149
- Yip L et al (2003) Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surgery 138: 409-416