Endocrine pathology
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Endocrine pathology · Mar 2017
Review Case ReportsA Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.
A syndrome known as pheochromocytomas (PCC)/paragangliomas (PGL) and polycythemia resulted from gain-of-function mutation of hypoxia-inducible factor 2α (HIF2α) has been reported recently. However, clinical features of this syndrome vary from patient to patient. In our study, we described the clinical features of the patient within 15-year follow-up with a literature review. ⋯ The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure. Comprehensive therapies for this disease include removal of the tumors and intermittent phlebotomies; administration of medications to control blood pressure and to prevent complications or death resulted from high concentration of red blood cell (RBC). Genetic test is strongly recommended for patients with early onset of polycythemia and multiple/recurrent PCC/PGL.
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Endocrine pathology · Dec 2016
ReviewMedullary Thyroid Carcinoma: Recent Advances Including MicroRNA Expression.
Medullary thyroid carcinoma (MTC) is an uncommon neuroendocrine tumor arising from the C cells in the thyroid and accounts for about 5 % of all thyroid cancers. MTC exhibits more aggressive behavior than follicular tumors, with the majority of cases presenting with lymph node metastasis. It is particularly common among patients carrying germline RET mutations with almost 100 % penetrance. ⋯ Recently, the gene regulatory roles of microRNAs (miRNAs) in MTC have been studied extensively. Multiple miRNA deregulations have been discovered in MTC with potential prognostic and therapeutic implications. This review provides an overview of the basic pathology of MTC and an update on recent investigational progress.