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Management of Medullary Thyroid Cancer
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
Genetically determined disease accounts for 25% of MTC cases, and its prevalence is estimated at 1 in 30,000. The three main clinical variants are all inherited as autosomal dominant disorders with 100% risk of developing MTC: Multiple endocrine neoplasia type 2A (MEN 2A): >50% of cases, associated with phaeochromocytoma and hyperparathyroidismMultiple endocrine neoplasia type 2B (MEN 2B): 5% of cases, biologically the most aggressive, with the highest propensity for metastasis, associated with phaeochromocytoma, marfanoid habitus, and ganglioneuromasFamilial medullary thyroid cancer (FMTC): only MTC
Management of Medullary Thyroid Cancer
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Genetically determined disease accounts for 25% of MTC cases. The three main clinical variants are all inherited as autosomal dominant disorders with age-related penetrance and variable expression: multiple endocrine neoplasia type 2A (MEN 2A): >50% of casesmultiple endocrine neoplasia type 2B (MEN 2B): 5% of casesfamilial medullary thyroid cancer (FMTC). The prevalence is estimated at 1 in 30 000. MTC is expressed in almost all patients and is usually the first manifestation of the syndrome; the age at onset can be roughly predicted according to the genotype.
Endocrine disorders
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Michael Skinner, Eduardo Perez
MEN2 is subclassified into three distinct syndromes: Multiple endocrine neoplasia type 2A (MEN2A); multiple endocrine neoplasia type 2B (MEN2B); and familial medullary thyroid cancer (FMTC). Each has specific characteristics.
Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b
Published in Ophthalmic Genetics, 2020
Ibadulla Mirzayev, Ahmet Kaan Gündüz, Cevriye Cansiz Ersöz, Ömür Özlenen Gündüz, Zarifakhanim Gahramanli
Multiple endocrine neoplasia type 2b (MEN 2b) is an autosomal dominant syndrome characterized by the association of thyroid medullary carcinoma, pheochromocytoma, and multiple mucosal neuromas. The most common finding of MEN 2b is mucosal neuroma (1). This condition is also known as MEN 3 syndrome. MEN 2b accounts for about 5% of hereditary medullary thyroid carcinomas (2). This syndrome is caused by germline mutations in the RET proto-oncogene (3,4). The gene for MEN 2b has been located in chromosome 10 (5). MEN 2b differs from MEN 2a by the presence of mucosal neuromas, skeletal abnormalities such as marfanoid habitus, and earlier onset and faster progression of thyroid cancer. Eye findings including dry eye, conjunctival and lid neuromas, thickened eyelids, and thickened corneal nerves can be seen in MEN 2b.
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
Published in Ophthalmic Genetics, 2018
Elke O. Kreps, Isabelle Van Herzeele, Bert L. Callewaert
Vascular imaging disclosed a dissection of the left internal carotid artery and several vascular anomalies (Figure 1). Upon ophthalmic assessment, visual acuity was 1.0 in both eyes (Snellen eye chart). Slit-lamp examination showed numerous prominent corneal nerve fibers across both corneas (Figure 2), plexiform subconjunctival neuromas in the perilimbal area (Figure 3), conjunctival hyperemia with superficial peripheral corneal neovascularization, and posterior blepharitis (Figure 4). Eversion of the upper eyelids revealed numerous neuromas on the palpebral conjunctiva, similar to lesions found on the tongue (Figure 5). Schirmer’s test showed markedly decreased tear production with wetting of less than 1 mm after 5 minutes (without anesthesia). Ocular examination was otherwise within normal limits. There was no family history of vascular or ophthalmic disease. PCR-based next-generation sequencing (NGS) of the RET gene revealed the recurrent c.2753T>C; p.(Met918Thr) mutation, confirming the diagnosis of multiple endocrine neoplasia type 2b (MEN 2b). No parental DNA was available to evaluate segregation of the mutation. Gene panel analysis for hereditary aortic and peripheral vasculopathies (FBN1, ACTA2, MYH11, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3, SKI, COL3A1) did not reveal any (likely) pathogenic variants. The carotid artery dissection was successfully managed medically. Frequent instillation with preservative-free lubricating drops and a course of topical fluorometholone and oral tetracyclines (for suspected staphylococcal hypersensitivity) alleviated his ocular symptoms and conjunctival hyperemia. He was referred to the endocrinology department for further screening for associated neoplasia.