Multiple endocrine neoplasia: Difference between revisions
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==Background== | ==Background== | ||
[[File:Multiple endocrine neoplasia.png|thumb|MEN findings by type.]] | |||
*Autosomal dominant predisposition to tumors within endocrine organs/glands | *Autosomal dominant predisposition to tumors within endocrine organs/glands | ||
*Classified into two distinct syndromes, multiple endocrine neoplasia type 1 (MEN1), and multiple endocrine neoplasia type 2 (MEN2) | *Classified into two distinct syndromes, multiple endocrine neoplasia type 1 (MEN1), and multiple endocrine neoplasia type 2 (MEN2) | ||
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***Most common manifestation of MEN1<ref>Al-Salameh A, Cadiot G, Calender A, Goudet P, Chanson P. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-224. doi: 10.1038/s41574-021-00468-3. Epub 2021 Feb 9. PMID: 33564173.</ref> | ***Most common manifestation of MEN1<ref>Al-Salameh A, Cadiot G, Calender A, Goudet P, Chanson P. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-224. doi: 10.1038/s41574-021-00468-3. Epub 2021 Feb 9. PMID: 33564173.</ref> | ||
**Pituitary adenomas | **Pituitary adenomas | ||
**Pancreatic islet cell/GI endocrine tumors (e.g., [[Zollinger-Ellison | **Pancreatic islet cell/GI endocrine tumors (e.g., [[Zollinger-Ellison syndrome]], [[Insulinoma]]) | ||
*MEN2A: | *MEN2A: | ||
**Primary [[hyperparathyroidism]] | **Primary [[hyperparathyroidism]] | ||
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==Evaluation== | ==Evaluation== | ||
*MEN1: Should be suspected in any patient with two or more primary MEN1 tumor types | |||
*MEN2: Should be suspected in any patient with medullary thyroid cancer or [[pheochromocytoma]] | |||
===Workup=== | ===Workup=== | ||
===Diagnosis=== | ===Diagnosis=== | ||
*Clinical diagnosis with confirmatory genetic testing | |||
**MEN1: Germline MEN1 mutation | |||
**MEN2: Germline RET mutation | |||
==Management== | ==Management== | ||
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==References== | ==References== | ||
<references/> | <references/> | ||
[[Category:Heme/Onc]] | |||
Latest revision as of 17:12, 1 March 2023
Background
- Autosomal dominant predisposition to tumors within endocrine organs/glands
- Classified into two distinct syndromes, multiple endocrine neoplasia type 1 (MEN1), and multiple endocrine neoplasia type 2 (MEN2)
- Type 2 further subclassified into MEN2A and MEN2B
Clinical Features
- MEN1:
- Primary hyperparathyroidism
- Most common manifestation of MEN1[1]
- Pituitary adenomas
- Pancreatic islet cell/GI endocrine tumors (e.g., Zollinger-Ellison syndrome, Insulinoma)
- Primary hyperparathyroidism
- MEN2A:
- Primary hyperparathyroidism
- Medullary thyroid cancer
- Pheochromocytoma
- MEN2B:
- Medullary thyroid cancer
- Pheochromocytoma
- Mucosal neuromas, often involving the lips and tongue
Differential Diagnosis
Evaluation
- MEN1: Should be suspected in any patient with two or more primary MEN1 tumor types
- MEN2: Should be suspected in any patient with medullary thyroid cancer or pheochromocytoma
Workup
Diagnosis
- Clinical diagnosis with confirmatory genetic testing
- MEN1: Germline MEN1 mutation
- MEN2: Germline RET mutation
Management
Disposition
See Also
External Links
References
- ↑ Al-Salameh A, Cadiot G, Calender A, Goudet P, Chanson P. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-224. doi: 10.1038/s41574-021-00468-3. Epub 2021 Feb 9. PMID: 33564173.