Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management

Friedhelm Raue, Karin Frank-Raue

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Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant tumour syndrome caused by germline activating mutations of the RET proto-oncogene. It has a strong penetrance of medullary thyroid carcinoma (MTC) and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient or family…

Detection rate of somatostatin receptor PET in patients with recurrent medullary thyroid carcinoma: a systematic review and a meta-analysis

Giorgio Treglia, Adriana Tamburello, Luca Giovanella

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PURPOSE: Several articles have demonstrated the high diagnostic performance of somatostatin receptor positron emission tomography (PET) in patients with neuroendocrine tumours (NETs). On the other hand, only a few studies have evaluated the detection rate (DR) of this imaging method in recurrent medullary thyroid carcinoma (MTC). We aimed to perform a systematic review and a meta-analysis of the DR of somatostatin receptor PET or PET/CT in patients with recurrent MTC to add evidence-based data …

Rare presentation of occult medullary carcinoma of the thyroid as a mediastinal mass

Vasiliki Daraki, Sofia Koukouraki, George Velegrakis, Evangelia Mamalaki, Vrettos T. Haniotis, George Kalikakis, Maria I. Stathaki, Nikos Karkavitsas, Stathis S. Papavasiliou

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OBJECTIVE: To describe a rare case of occult (<1cm in diameter) medullary thyroid carcinoma (MTC) in a 45-year-old woman, presenting as an asymptomatic mediastinal mass. DESIGN: The diagnostic methodology included laboratory measurements of relevant biochemical and hormonal parameters ...