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Familial medullary thyroid carcinoma(MTC)

MedGen UID:
322311
Concept ID:
C1833921
Neoplastic Process
Synonyms: MTC; MTC, familial; NTRK1-Related Familial Medullary Thyroid Carcinoma; Thyroid cancer, familial medullary
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): RET (10q11.21)
 
Monarch Initiative: MONDO:0007958
OMIM®: 155240
Orphanet: ORPHA99361

Disease characteristics

Excerpted from the GeneReview: Multiple Endocrine Neoplasia Type 2
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC. [from GeneReviews]
Authors:
Charis Eng  |  Gilman Plitt   view full author information

Additional descriptions

From OMIM
Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see 171400)/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see 188550.  http://www.omim.org/entry/155240
From MedlinePlus Genetics
The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.

Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.

The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.

Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.

Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia

Clinical features

From HPO
Medullary thyroid carcinoma
MedGen UID:
66772
Concept ID:
C0238462
Neoplastic Process
The presence of a medullary carcinoma of the thyroid gland.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial medullary thyroid carcinoma in Orphanet.

Professional guidelines

PubMed

Nozhat Z, Hedayati M
J Pediatr Endocrinol Metab 2016 Jun 1;29(6):633-9. doi: 10.1515/jpem-2015-0309. PMID: 26974132
Pappa T, Alevizaki M
Endocrine 2016 Jul;53(1):7-17. Epub 2016 Feb 2 doi: 10.1007/s12020-016-0873-1. PMID: 26839093
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387

Curated

Raue F, Rondot S, Schulze E, Szpak-Ulczok S, Jarzab B, Frank-Raue K
Eur J Hum Genet 2012 Jan;20(1) Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.142. PMID: 21863057Free PMC Article

UK NICE Guideline NG230, Thyroid cancer: assessment and management

Recent clinical studies

Etiology

Fallahi P, Ferrari SM, Galdiero MR, Varricchi G, Elia G, Ragusa F, Paparo SR, Benvenga S, Antonelli A
Semin Cancer Biol 2022 Feb;79:180-196. Epub 2020 Nov 26 doi: 10.1016/j.semcancer.2020.11.013. PMID: 33249201
Guilmette J, Nosé V
Histopathology 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. PMID: 29239041
Pappa T, Alevizaki M
Endocrine 2016 Jul;53(1):7-17. Epub 2016 Feb 2 doi: 10.1007/s12020-016-0873-1. PMID: 26839093
Griebeler ML, Gharib H, Thompson GB
Endocr Pract 2013 Jul-Aug;19(4):703-11. doi: 10.4158/EP12430.RA. PMID: 23512389
Nosé V
Endocr Pathol 2008 Winter;19(4):226-40. doi: 10.1007/s12022-008-9045-z. PMID: 18931957

Diagnosis

Fallahi P, Ferrari SM, Galdiero MR, Varricchi G, Elia G, Ragusa F, Paparo SR, Benvenga S, Antonelli A
Semin Cancer Biol 2022 Feb;79:180-196. Epub 2020 Nov 26 doi: 10.1016/j.semcancer.2020.11.013. PMID: 33249201
Guilmette J, Nosé V
Histopathology 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. PMID: 29239041
Pappa T, Alevizaki M
Endocrine 2016 Jul;53(1):7-17. Epub 2016 Feb 2 doi: 10.1007/s12020-016-0873-1. PMID: 26839093
Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Thyroid 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335. PMID: 25810047Free PMC Article
Griebeler ML, Gharib H, Thompson GB
Endocr Pract 2013 Jul-Aug;19(4):703-11. doi: 10.4158/EP12430.RA. PMID: 23512389

Therapy

Saltiki K, Simeakis G, Karapanou O, Paschou SA, Alevizaki M
Endocrine 2023 Jun;80(3):570-579. Epub 2023 Jan 10 doi: 10.1007/s12020-022-03296-1. PMID: 36626081
Fallahi P, Ferrari SM, Galdiero MR, Varricchi G, Elia G, Ragusa F, Paparo SR, Benvenga S, Antonelli A
Semin Cancer Biol 2022 Feb;79:180-196. Epub 2020 Nov 26 doi: 10.1016/j.semcancer.2020.11.013. PMID: 33249201
Jin LX, Moley JF
Cancer 2016 Feb 1;122(3):358-66. Epub 2015 Nov 5 doi: 10.1002/cncr.29761. PMID: 26539937
Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Thyroid 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335. PMID: 25810047Free PMC Article
Guyétant S, Bléchet C, Saint-André JP
Ann Endocrinol (Paris) 2006 Jun;67(3):190-7. doi: 10.1016/s0003-4266(06)72585-9. PMID: 16840909

Prognosis

Fallahi P, Ferrari SM, Galdiero MR, Varricchi G, Elia G, Ragusa F, Paparo SR, Benvenga S, Antonelli A
Semin Cancer Biol 2022 Feb;79:180-196. Epub 2020 Nov 26 doi: 10.1016/j.semcancer.2020.11.013. PMID: 33249201
Barletta JA, Nosé V, Sadow PM
Endocr Pathol 2021 Mar;32(1):35-43. Epub 2021 Jan 25 doi: 10.1007/s12022-021-09664-3. PMID: 33492588Free PMC Article
Pappa T, Alevizaki M
Endocrine 2016 Jul;53(1):7-17. Epub 2016 Feb 2 doi: 10.1007/s12020-016-0873-1. PMID: 26839093
Griebeler ML, Gharib H, Thompson GB
Endocr Pract 2013 Jul-Aug;19(4):703-11. doi: 10.4158/EP12430.RA. PMID: 23512389
Moo-Young TA, Traugott AL, Moley JF
Surg Clin North Am 2009 Oct;89(5):1193-204. doi: 10.1016/j.suc.2009.06.021. PMID: 19836492Free PMC Article

Clinical prediction guides

Saltiki K, Simeakis G, Karapanou O, Paschou SA, Alevizaki M
Endocrine 2023 Jun;80(3):570-579. Epub 2023 Jan 10 doi: 10.1007/s12020-022-03296-1. PMID: 36626081
Saltiki K, Simeakis G, Anagnostou E, Zapanti E, Anastasiou E, Alevizaki M
Head Neck 2019 Jan;41(1):154-161. Epub 2018 Dec 11 doi: 10.1002/hed.25463. PMID: 30548085
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387
Baloch ZW, LiVolsi VA
Turk Patoloji Derg 2015;31 Suppl 1:60-79. doi: 10.5146/tjpath.2015.01315. PMID: 26177318
Chernock RD, Hagemann IS
Am J Clin Pathol 2015 Jun;143(6):768-77. doi: 10.1309/AJCPHWACTTUYJ7DD. PMID: 25972318

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG230, Thyroid cancer: assessment and management
    • EuroGenetest, 2011
      Clinical utility gene card for: multiple endocrine neoplasia type 2.

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