Multiple endocrine neoplasia
From Wikipedia, the free encyclopedia
| Multiple endocrine neoplasia Classification and external resources |
|
| ICD-10 | D44.8 |
|---|---|
| MeSH | D009377 |
The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign. Benign or malignant tumors of nonendocrine tissues occur as components of some of these tumor syndromes.
The older names "multiple endocrine adenomas", or "multiple endocrine adenomatosis" (MEA) have been replaced by the current terminology.
The term multiple endocrine neoplasia is used when two or more endocrine tumor types, known to occur as a part of one of the defined MEN syndromes, occurs in a single patient and there is evidence for either a causative mutation or hereditary transmission. The presence of two or more tumor types in a single patient does not automatically designate that individual as having MEN because there is a small statistical chance that development of two "sporadic" tumors that occur in one of the MEN syndromes could occur by chance.
Although not officially categorized as multiple endocrine neoplasia syndromes, von Hippel Lindau syndrome or VHL syndrome and Carney Complex are two other autosomal dominant endocrine tumor syndromes with features that overlap the clinical features of the MEN syndromes. Although not transmitted in the germline, McCune-Albright syndrome is a genetic syndrome characterized by endocrine neoplastic features involving endocrine glands that overlap with those involved in MEN1 or MEN2.
Confusingly, a single report of "MEN4" (OMIM 610755) has appeared.
MEN syndromes are inherited as autosomal dominant disorders.
| Feature | MEN 1 | MEN 2 | ||
|---|---|---|---|---|
| MEN 2A | MEN 2B | FMTC | ||
| Eponym | Wermer syndrome | Sipple syndrome | (see below) | (none) |
| OMIM | 131100 | 171400 | 162300 | 155240 |
| Pancreatic tumors | insulinoma, gastrinoma | - | - | - |
| Pituitary adenoma | Yes | - | - | - |
| Parathyroid hyperplasia | Yes | Yes | - | - |
| Medullary thyroid carcinoma | - | Yes | 100% | 100% |
| Pheochromocytoma | - | Yes | 50% | - |
| Marfanoid body habitus | - | - | 80% | - |
| multiple mucosal neuromata | - | - | >95% | - |
| spontaneous mutation rate | 50% | |||
| Gene(s) | MEN1 (131100) | RET (164761) | RET (164761) | RET (164761), NTRK1 (191315) |
| Approx. prevalence | 1 in 1,000,000 | |||
| Initial description (year) | 1954[1] | 1961[2] | 1965 | |
(Blanks indicate that data are not yet available.)
MEN 2B was known as MEN 3 for a short time in the 1970s, but that term is no longer used. Although a variety of eponyms have been proposed for MEN2B (e.g. Williams-Pollock syndrome, Gorlin-Vickers syndrome, and Wagenmann-Froboese syndrome), none ever gained suffiicient traction to merit continued use and, indeed, are all but abandoned in the medical literature. Another early report was Schimke et al in 1968.[3]
In November 2007, cardiologist John G. Sotos announced his hypothesis that Abraham Lincoln, the 16th President of the United States (1861–1865), had MEN 2B.[4][5]
[edit] References
- ^ Wermer P. Genetic aspect of adenomatosis of endocrine glands. Am J Med 1954;16:363-371. PMID 13138607.
- ^ Sipple JH. The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 1961;31:163-166.
- ^ Schimke RN, Hartmann WH, Prout TE, Rimoin DL. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med 1968;279:1-7. PMID 4968712
- ^ http://www.physical-lincoln.com/ The Physical Lincoln
- ^ Brown, David. "Is Lincoln Earliest Recorded Case of Rare Disease?", washingtonpost.com, 2007-11-26. Retrieved on 2007-11-26.
[edit] External links
- Endocrine and Metabolic Diseases Information Service
- The Association for Multiple Endocrine Neoplasia Disorders (AMEND)
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