Clinical Presentation of Medullary Thyroid Carcinoma

• Sporadic MTC (75% of all cases):Typically occurs between the fourth to sixth decade of life:However, patients with hereditary disease:Present earlier
  • Patients with MTC who present with a palpable thyroid nodule:70% will have cervical lymphadenopathy
    • 15% to 20% will have palpable cervical lymphadenopathy.
  • Pain or aching:Is also a common symptom of MTC
  • Local tumor invasion may produce symptoms of:Dysphagia, dyspnea, or dysphonia
  • Patients with extensive metastatic disease frequently develop:Diarrhea:Which may result from:Increased intestinal motility and impaired intestinal water and electrolyte flux:Due to high calcitonin levels
    • About 2% to 4% of patients develop:Cushing syndrome:As a result of ectopic production of ACTH
• Classic MEN2A is the most common variant of MEN2 (95% of the cases):Most patients carry germline RET mutations in:Codons 609, 611, 618, or 620 of exon 10
  • • Codon 634 of exon 11
  • Almost all patients develop MTC:But pheochromocytomas have the highest penetrance in patients with:Codon 634 mutations:52% by age 50
    • • • 88% by age 77
      • These adrenal tumors:Are almost always benign
        • Are usually multicentric
        • Are associated with diffuse adrenal nodular hyperplasia
    • HPT:Is usually mild and may involve one to four parathyroid glands.
      • RET codon 634 mutations:Are associated with a penetrance of up to 30% for PHPT, whereas it ranges from 2 to 12% for the remaining mutations.
• Cutaneous lichen amyloidosis (CLA):Can occur sporadically or in an inherited manner:Either separately or in the context of MEN2A
  • The skin lesions of CLA in MEN2A:Are most apparent in the dermatomes corresponding to T2 to T6:Scapular region of the back
  • The classic symptom is:Itching:That worsens in times of stress
    • • Improves with sun exposure
  • The lesions are incited by notalgia paresthetica:A sensory neuropathy of the dorsal spinal nerve:May occur prior to MTC
  • CLA is almost exclusively found in patients with:The codon 634 mutations (exon 11)
    • Although cases have also been reported in patients with:Codon 804 mutations
    • Pheochromocytomas and PHPT in CLA patients:Occur at frequencies similar to classic MEN2A
• In patients with MEN2B:MTC often presents in infancy and is usually highly aggressive
  • Approximately 75% to 90% of MEN2B cases occur in patients:Having de novo RET mutations:Whereas 10% to 25% occur in families with:Known history of MEN2B
  • About 95% of MEN2B individuals:Have codon M918T mutations (exon 13) – Highest risk (HST)The remaining 5% have codon A883F mutations (exon 15) – High risk (H):The MTCs in codon A883F tend to be less aggressive
  • Pheochromocytomas develop in:About 50% of MEN2B patients
  • These individuals also have a typical appearance that includes:Eye abnormalities:Thickened and everted eyelids
    • • Mild ptosis
      • Thickened corneal nerves
    • Marfanoid body habitus
    • Long narrow facies
    • Pes cavus
    • Pectus excavatum
    • High-arched palate
    • Scoliosis
    • Slipped capital femoral epiphyses
    • Mucosal neuromas
    • Diffuse ganglioneuromatosis of the aerodigestive tractLeading to bloating, intermittent constipation, diarrhea, and even intestinal obstruction
  • Some patients have atypical MEN2B:Which presents later in life:Around 20 to 30 years of age:These patients have double RET germline mutations:Occurring in tandem on the same allele:Usually V804M and either Y806C, S904C, E805K, or Q781R 

 

• Rodrigo Arrangoiz MS, MD, FACS:
  • Is a member of the American Head and Neck Society

• • He is a member of the American Thyroid Association:

Training:

• General surgery:

• Michigan State University:

• 2004 al 2010

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• Fox Chase Cancer Center (Filadelfia):

• 2010 al 2012

• Masters in Science (Clinical research for health professionals):

• Drexel University (Filadelfia):

• 2010 al 2012

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• IFHNOS / Memorial Sloan Kettering Cancer Center:

• 2014 al 2016

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