History

A specific constellation of symptoms of medullary thyroid carcinoma (MTC) is not usually noted; however, one or more of the following symptoms may be observed:

Patients may describe a lump at the base of the neck, which may interfere with or become more prominent during swallowing
Patients with locally advanced disease may present with hoarseness, dysphagia, and respiratory difficulty
Although uncommon, patients may present with various paraneoplastic syndromes, including Cushing or carcinoid syndrome
Diarrhea may occur from increased intestinal electrolyte secretion secondary to high plasma calcitonin levels
Distant metastases (eg, lung, liver, bone) may result in weight loss, lethargy, and bone pain

Physical Examination

Physical examination may demonstrate a dominant thyroid nodule at the base of the neck. Palpable cervical lymphadenopathy signifies disease that has progressed locally. Icterus, and rarely, bone tenderness may occur in patients with systemic metastases.

Cutaneous lichen amyloidosis in MEN 2A patients manifests as multiple pruritic, hyperpigmented, lichenoid papules in the scapular area of the back. MEN2B patients may have a marfanoid habitus with mucosal neuromas.

Labile hypertension may be seen in those with an associated pheochromocytoma.

Differential Diagnoses

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Media Gallery

Algorithm for the management of a solitary thyroid nodule. FNAB = fine needle aspiration biopsy; US = ultrasonography.
MRI of a patient with medullary thyroid carcinoma.

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Author

Anastasios K Konstantakos, MD Clinical Associate Surgeon, Department of Cardiovascular Surgery, Billings Clinic

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Neerav Goyal, MD, MPH, FACS Associate Professor of Otolaryngology-Head and Neck Surgery, Neurosurgery, Public Health Sciences, and Surgery, Chief, Division of Head and Neck Oncology and Surgery, Pennsylvania State University College of Medicine; Associate Director, Skull Base and Pituitary Center, Department of Otolaryngology-Head and Neck Surgery, Penn State Health, Milton S Hershey Medical Center, Penn State Cancer Institute

Neerav Goyal, MD, MPH, FACS is a member of the following medical societies: Alpha Omega Alpha, American Academy of Otolaryngology-Head and Neck Surgery, American College of Surgeons, American Head and Neck Society, American Medical Association, Hobart Amory Hare Honor Society, North American Skull Base Society, Pennsylvania Academy of Otolaryngology-Head and Neck Surgery, Society of University Otolaryngologists-Head and Neck Surgeons

Disclosure: Received research grant from: Medrobotics, Inc; Synthes, Inc, LivaNova.

Additional Contributors

Lodovico Balducci, MD Professor, Oncology Fellowship Director, Department of Internal Medicine, Division of Adult Oncology, H Lee Moffitt Cancer Center and Research Institute, University of South Florida Morsani College of Medicine

Lodovico Balducci, MD is a member of the following medical societies: American Association for the Advancement of Science, American Association for Cancer Research, American College of Physicians, American Geriatrics Society, American Society of Hematology, New York Academy of Sciences, American Society of Clinical Oncology, Southern Society for Clinical Investigation, International Society for Experimental Hematology, American Federation for Clinical Research, American Society of Breast Disease

Disclosure: Nothing to disclose.

Kayla Krause, BA MD Candidate, Pennsylvania State University College of Medicine

Disclosure: Nothing to disclose.

Acknowledgements

Medscape Reference gratefully acknowledges the contributions of Debra J Graham, MD, to previous versions of this article.

Risk Level	RETcodon Mutation	Possible Diagnoses	Prophylactic Thyroidectomy Recommendations	Follow-up
Highest Risk (HST)	M918T+All MEN2B	MEN2B	Within the first year of life or the first months of life based upon specialist and parental discussions. The ability to identify and preserve or transplant parathyroid glands determines level VI dissection.	Physical exam, neck US, serum Ctn, and serum CEA every 6 mos first year, then annually; begin screening for pheochromocytoma at age 11 yr
High Risk (H)	C634, A883F	MEN2A	At or before age 5 yr, to be determined on the basis of serum Ctn	Physical exam, neck US, serum Ctn, and serum CEA every 6 mos first year, then annually. Begin screening for pheochromocytoma at age 11.
Moderate Risk (MOD)	All other mutations	MEN2A	When serum Ctn becomes elevated or in childhood to avoid lengthy evaluation period.	Evaluate every 6 months for 1 year. Annual follow-ups thereafter if serum Ctn is normal or undetectable. Begin screening for pheochromocytoma at age 16 yr

Medullary Thyroid Carcinoma Clinical Presentation

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