OBJECTIVE To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations of multiple endocrine neoplasia type ...

While accounting for only 1% of solid organ malignancies (9% in women), thyroid carcinoma is the most common malignancy of the endocrine system. Although most patients have a favorable prognosis, over 1,500 people will die from thyroid carcinoma each year. The spectrum of disease types range from papillary thyroid cancer, which is a well-differentiated indolent tumor, to anaplastic carcinoma, a...

The case of a 27 year-old woman with typical manifestations of multiple endocrine neoplasia type II b is reported. Medullary carcinoma of the thyroid was detected on the occasion of an operation for goiter when she was 22 years of age. Constipation due to megacolon caused by intestinal neuroma had persisted since childhood. Neuroma of the tongue and lips, hypertrophic corneal nerve and Marfanoi...

Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the potential carriers of the menin gene m...

The recent availability of molecular targeted therapies leads to a reconsideration of the treatment strategy for patients with distant metastases from medullary thyroid carcinoma. In patients with progressive disease, treatment with kinase inhibitors should be offered.

abstract renal medullary carcinoma (rmc) is an uncommon aggressive neoplasm of the kidney. rmc is biologically aggressive with a very poor prognosis, and metastasis is seen in up to 95% of the patients at diagnosis or shortly thereafter. the common sites of metastasis are respectively lymph nodes, lungs, livers, and adrenal glands in order of frequency. the presence of poorly differentiated eos...

The most common BRAF mutation in thyroid cancer is c.1799T>A (p.Val600Glu), and other BRAF mutations are rarely reported. We investigated the clinicopathological features of thyroid cancer with rare BRAF mutations. A total of 2,763 patients with thyroid cancer underwent molecular testing by direct DNA sequencing for mutations in BRAF exon 15. Among them, 2,110 (76.4%) had BRAF mutations. The c....

BACKGROUND Collision tumors of the thyroid are rare, with occasional reports dealing with their genetic analysis. CASE PRESENTATION A 59 year old lady presented with a neck mass, associated with hoarseness of voice of 5 years duration. Radiological examination revealed nodular masses in the left lobe of her thyroid, along with one in the isthmus, extending into the right lobe and associated w...