multiple endocrine neoplasia type-2 (MEN-2)
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Introduction
Uncommon inherited cancer syndrome.
Pathology
- predisposition to medullary thyroid carcinoma & pheochromocytoma
- hyperparathyroidism (MEN2A) (20-30%)
- mucosal neuromas
- ganglioneuromas of the intestine tract
Genetics
- inheritance: autosomal dominant
- high penetrance
- RET gene is mutated in 95-98% of patients
- cysteine mutation at boundary of extracellular space & transmembrane region is frequently affected
Clinical manifestations
- marfanoid habitus (MEN2B)
- skeletal & ophthalmic abnormalities
- palpable neck mass may be present
- disease progresses rapidly with the development of metastatic medullary thyroid carcinoma & pheochromocytoma in 50% of cases
- diarrhea resulting from high plasma calcitonin associated with medullary thyroid carcinoma
- hypertension & palpitations associated with pheochromcytoma
Laboratory
- DNA analysis for RET mutations
- basal & provoked calcitonin level
- pentagastrin or calcium used for provocation
- annually: age 3-35 years
- urinary fractionated catecholamines, metanephrines & vanillylmandelic acid (VMA) (annually)
- serum Ca+2 (ionized or albumin-adjusted)
- serum parathyroid hormone (PTH)
- fine-needle aspiration
- see ARUP consult[6]
Management
- thyroidectomy for medullary carcinoma of the thyroid
- palliative role for external radiotherapy
- begin screening in early childhood before age 5
- GLP-1 receptor agonists (incretin mimetics, glutides) are contraindicated in patients with medullary thyroid cancer or MEN2[7]
More general terms
More specific terms
- multiple endocrine neoplasia type-2A (MEN-2A); Sipple syndrome
- multiple endocrine neoplasia type-2B (MEN-2B)
Additional terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 270-71
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 16, 18. American College of Physicians, Philadelphia 1998, 2006, 2012, 2018.
- ↑ Brandi ML, Gagel RF, Angeli A, Bilezikian JP Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001 Dec;86(12):5658-71. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11739416
- ↑ Moline J, Eng C. Multiple endocrine neoplasia type 2: an overview. Genet Med. 2011 Sep;13(9):755-64 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21552134
- ↑ Krampitz GW, Norton JA RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Cancer. 2014 Jul 1;120(13):1920-31. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24699901 Free Article
- ↑ 6.0 6.1 ARUP Consult: Multiple Endocrine Neoplasia Type 2 https://arupconsult.com/ati/multiple-endocrine-neoplasia-type-2
- ↑ 7.0 7.1 NEJM Knowledge+ Endocrinology
Patient information
multiple endocrine neoplasia type-2 patient information