Familial medullary thyroid carcinoma
- Synonyms
- MTC, familial; NTRK1-Related Familial Medullary Thyroid Carcinoma; Thyroid cancer, familial medullary
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview: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.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Charis Eng
- Gilman Plitt
- view full author information
Available tests
101 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Neoplasm
- Medullary thyroid carcinoma
Medullary thyroid carcinoma
- MedGen UID: 66772
- Concept ID: C0238462
- Finding: Neoplastic Process
Neoplasm
- Medullary thyroid carcinoma
- NCI PDQ, Endocrine and Neuroendocrine Neoplasia geneticsGenetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NICE, 2022UK NICE Guideline NG230, Thyroid cancer: assessment and management
- EuroGenetest, 2011Clinical utility gene card for: multiple endocrine neoplasia type 2.
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