Introduction: Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy but accounts for a significant mortality. We present 2 cases of MTC and review the literature regarding its management and genetic screening.Clinical Picture: Patient 1 presented after a routine health screening and subsequently was found to have a germline mutation for MEN 2A. Patient 2 presented with sweating irritability and a thyroid mass which illustrates the progressive relentless nature of the disease and highlights current imaging practice. Treatment: Both patients underwent extensive surgery and received postoperative ablative dose of radioactive iodine. Patient 2 also had a large dose I-131 MIBG therapy and further surgery. Outcome: In Patient 1, postoperative calcitonins remained elevated indicating residual disease. Patient 2 underwent further radioguided surgery; however, his postoperative calcitonins remained elevated. Conclusion: MTC can be relentless. Routine genetic screening of all patients with MTC, Tc-99m pentavalent (V) DMSA imaging, near total thyroidectomy with routine central neck dissections and removal of all lymph nodes in the central neck compartment should be performed.
A 44-year-old Indian man was found to have a raised carcinoembryonic antigen (CEA) (49.5 μg/L) [normal range <5.1 μg/L] detected on routine medical examination in February 2000. His past medical history included asthma, chronic anal fissure and haemorrhoids, cervical spondylosis and mild hypercholesterolaemia.
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