In view of the morbidity and frequency in familial cases an effective screening programme should aim at an early diagnosis of GEP particularly when truncating, especially nonsense mutations are found.
Cystic adenomas of the parathyroid glands are often misdiagnosed as thyroid cysts or - in the case of extremely elevated parathyroid hormone levels - even as parathyroid carcinoma. The routine preoperative diagnostic tools, such as ultrasonography or (99m)Tc-sestamibi-scintigraphy, cannot clearly distinguish between these entities and might be jeopardized by mediastinal localization, which is not uncommon in parathyroid adenomas with cystic degeneration.
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