Medullary Thyroid Cancer: A 28 year old male has suffered from FUO, high blood pressure, diarrhea, and rapid heart rate for several years. Examination revealed enlarged cervical lymph nodes and thyroid nodularity. A biopsy was taken, as were several blood tests. After determining he carried a specific genetic mutation he was diagnosed with Sipple Syndrome (MEN 11-B).
A mutation in what gene was found?
- STAT 1
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Answer: 1, RET.
The cause of most medullary thyroid carcinoma cases is unknown. However, some are associated with MEN (multiple endocrine neoplasia). One of these diseases is Sipple Syndrome (MEN 11-B). It is an autosomal dominant inherited syndrome that includes bilateral C cell (medullary) carcinoma, pheochromocytoma and hyperthyroidism. Both males and females carrying this gene usually become symptomatic in their thirties. The cancer cell of origin is the C cell which is the producer of calcitonin.
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