Multiple endocrine neoplasia (MEN) type 2B is a heritable endocrine disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, multiple mucosal neuromas, and a marfanoid habitus. Intestinal ganglioneuromatosis, corneal nerve thickening and skeletal abnormalities are also often present. The disease is inherited in an autosomal dominant fashion and is caused by a single mutation in the RET proto-oncogene, with a methionine to threonine substitution at codon 918. The MTC in MEN 2B presents at an earlier age and tends to be more aggressive than the MTC in MEN 2A. It is multicentric and bilateral and occurs as young as age 3, with early lymph node metastases. Pheochromocytoma is also often bilateral but is rarely malignant. If pheochromocytoma is detected, adrenalectomy should precede thyroidectomy to avoid intraoperative catecholamine crisis. Patients at risk for MEN 2B should undergo genetic screening in infancy. Total thyroidectomy should be performed on all patients positive for RET mutations even prior to the onset of clinical symptoms.
Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b
Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A
Results of early thyroidectomy for medullary thyroid carcinoma in children with multiple endocrine neoplasia type 2
Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity
Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia, type 2
Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease
Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue
Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
Prophylactic thyroidectomy, based on direct genetic testing, in patients at risk for the multiple endocrine neoplasia type 2 syndromes
Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
Somatostatin receptor scintigraphy for early detection of regional and distant metastases of medullary carcinoma of the thyroid
Comparison of the hemodynamic parameters of open and laparoscopic adrenalectomy for pheochromocytoma
Multiple endocrine neoplasia type 2B mutation in human RET oncogene induces medullary thyroid carcinoma in transgenic mice
Mucosal Schwann cell "hamartoma": clinicopathologic study of 26 neural colorectal polyps distinct from neurofibromas and mucosal neuromas
Alternative surgical strategies and favorable outcomes in patients with medullary thyroid carcinoma in Japan: experience of a single institution
Excellent prognosis of patients with nonhereditary medullary thyroid carcinoma with ultrasonographic findings of follicular tumor or benign nodule
Vasoactive intestinal polypeptide-producing ganglioneuromatosis involving the entire colon and rectum
Inhibition of cell death results in hyperganglionosis: implications for enteric nervous system development
Recombinant leukemia inhibitory factor suppresses human medullary thyroid carcinoma cell line xenografts in mice
Metastatic medullary thyroid cancer in a pediatric patient with MEN 2B: emphasis on the need for early recognition of extrathyroidal clinical findings associated with MEN 2B
Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease
Validity of 6(th) edition of UICC TNM classification system for medullary thyroid carcinoma: a proposal for intraoperative evaluation of T category
Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases.
Static Prognostic Factors and Appropriate Surgical Designs for Patients with Medullary Thyroid Carcinoma: The Second Report from a Single-Institution Study in Japan
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