Multiple endocrine neoplasia 2B (MEN2B) has a classic childhood phenotypic presentation characterized by mucosal neuromas and marfanoid habitus. However, the diagnosis of MEN2B is often delayed beyond childhood, at which time medullary thyroid carcinoma (MTC) may be regionally advanced or metastatic. We examined the extent of this delay and its impact on the treatment of MTC. Patients in the MEN database were retrospectively analyzed to determine the age at first presentation for a MEN2B-related complaint and the subsequent time to correct diagnosis. Operative and pathology reports were reviewed to determine the extent of thyroidectomy and cervical lymphadenectomy during the initial and subsequent neck operations. We identified 22 patients with MEN2B, 20 were de novo cases and a M918T RET gene mutation was confirmed in 18 of the 22 patients. Median age at diagnosis of MTC was 13 years (range 6-25 years). The median delay in diagnosis was 26 months (range 0-18 years). Persistent local-regional MTC was present following the initial cervical operation in 12 of 22 patients (55%); including 4 of 13 with MEN2B diagnosed prior to initial surgery and 8 of 9 with MEN2B diagnosed after initial surgery. Most patients displayed phenotypic ...Continue Reading
Mucosal ganglioneuromatosis, medullary thyroid carcinoma, and pheochromocytoma: multiple endocrine neoplasia, type 2b
Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: results in 71 thyroidectomized patients. The French Calcitonin Tumours Study Group (GETC)
A case of multiple endocrine neoplasia type 2B undiagnosed for many years despite its typical phenotype
Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course
Medullary thyroid carcinoma: results of a standardized surgical approach in a contemporary series of 80 consecutive patients
Expression profiles provide insights into early malignant potential and skeletal abnormalities in multiple endocrine neoplasia type 2B syndrome tumors
A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma
Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease
RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors
Surgical curability of medullary thyroid cancer in multiple endocrine neoplasia 2B: a changing perspective
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation
Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing
Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations
Multiple endocrine neoplasia [corrected] syndrome type 2B in early childhood: long-term benefit of prophylactic thyroidectomy
Transcoelomic spread and metastasis of a squamous cell carcinoma of presumed pancreatic duct origin in a cat
The American Association of Endocrine Surgeons Guidelines for the Definitive Surgical Management of Thyroid Disease in Adults.
Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium
Multiple endocrine neoplasia type 2B: Frequency of physical stigmata-Results of the GPOH-MET registry
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
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.