Mucosal ganglioneuromatosis, medullary thyroid carcinoma, and pheochromocytoma: multiple endocrine neoplasia, type 2b
Multiple endocrine neoplasia, type 2b, is a designation that has been proposed for the combination of medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, and somatic abnormalities. The neural lesions produce a characteristic diffuse or nodular enlargement of lips, tongue, and buccal mucosa. Microscopically, the lesions are composed of unencapsulated masses of hypertrophied and elongated nerves in which are found rare ganglion cells. The histologic similarity between the oral mucosal lesions and the alimentary tract ganglioneuromatosis in the syndrome suggests that the term ganglioneuromatosis is the most appropriate designation for the oral lesions. The oral lesions signal high risk for two potentially lethal neoplasms--medullary thyroid carcinoma and pheochromocytoma. Thus, patients having the characteristic findings are in urgent need of repeated evaluation of thyroidal C-cell and adrenal medullary function.
Concentrations of calcitonin and catecholamines in pheochromocytomas, a mucosal neuroma and medullary thyroid carcinoma
Roentgen findings in intestinal ganglioneuromatosis. Its association with medullary thyroid carcinoma and pheochromocytoma
Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course
Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b
Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation
RET receptor tyrosine kinase gene mutations: molecular biological, physiological and clinical aspects
The ultrastructure of oral neuromas in multiple mucosal neuromas, pheochromocytoma, medullary thyroid carcinoma syndrome
Cholecystitis, cholelithiasis, and ganglioneuromatosis of the gall bladder: an unusual presentation of MEN type 2b
Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies
Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A
Mucocutaneous pigmented spots and oral myxomas: the oral manifestations of the complex of myxomas, spotty pigmentation, and endocrine overactivity
Syndrome of multiple mucosal neurofibromas, pheochromocytoma and medullary thryoid carcinoma. Report of a case
Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases
Multiple endocrine neoplasia type 2B mutation in human RET oncogene induces medullary thyroid carcinoma in transgenic mice
Multiple endocrine neoplasia type 2B: Frequency of physical stigmata-Results of the GPOH-MET registry
Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations
Autoimmune Polyendocrine Syndromes
This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.