Search results for "MEN2B"

Difficoltà di identificazione della sindrome MEN2B ad esordio infantile: iter diagnostico.

2004

Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10

2010

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for clinical-risk profiles. Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were studied. A total of 340 subjects from 103 families, age 4-86, were registered. There were 21 distinct single nucleotide germline mutations located in codons 609 (45 subjects), 611 (50), 618 (94), and 620 (151). MTC was present…

Mucosal Neuroma Syndrome without mutations of the RET-protooncogene: A histologic study on a case, supported by molecular genetic analysis.

2010

Mucosal neuromas are nerve hamartomas of the digestive tract and larynx, usually observed in the setting of Multiple Endocrine Neoplasia type 2B (MEN2B), i.e. in the presence of typical mutations and in association with medullary thyroid carcinoma, pheochromocytoma and marfanoid habitus. Exceptionally, they arise without the accompanying mutations and endocrine tumors, and in this paper we are reporting a histologic study on a case lacking the specific mutations. The patient was an adolescent girl with marfanoid habitus, with a left-sided epidermal nevus of the neck, and a bulging left upper lip and cheek. The left side of her tongue was considerably enlarged and studded with multiple protr…