External ophthalmic findings in multiple endocrine neoplasia type 2B

SUMMARYMultiple endocrine neoplasia (MEN) refers to the synchronous or metachronous development of tumours in two or more endocrine organs. MEN 2B is associated with medullary thyroid carcinoma and phaeochromocytoma along with classic morphological features such as marfanoid habitus and mucosal neuromas. Dominantly inherited germline mutations involving the REarranged during Transfection (RET) proto-oncogene are responsible. Affected patients usually present in childhood with thyroid mass or gastrointestinal symptoms. We describe the case of a 28-year-old man who presented to us with metastatic medullary thyroid carcinoma. He lacked the classic marfanoid habitus, but had mucosal neuromas and thickened corneal nerves. Whole-body metaiodobenzyl guanidine scan (MIBG) showed tracer uptake in adrenal and thyroid-confirming phaeochromocytoma and medullary thyroid carcinoma. This case exemplifies the late presentation of multiple endocrine neoplasia 2B and emphasises the need to screen all cases of medullary thyroid carcinoma for phaeochromocytoma. BACKGROUND

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“…Gastrointestinal symptoms are the most common presenting feature in children 5. Our patient however did not have any gastrointestinal symptoms.…”

Section: Discussioncontrasting

confidence: 49%

Multiple endocrine neoplasia 2B: delayed presentation, rapid diagnosis

et al. 2013

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“…Families with MEN2B (least common MEN2 phenotype) develop MTC and pheo (50%). Additional MEN2B clinical characteristics are ocular abnormalities (corneal nerve thickening [CNT] 60-90%), mucosal ganglioneuromas (70-100%), gastrointestinal ganglioneuromas (40-90%), and skeletal abnormalities (Marfanoid body habitus 75%) [de Groot et al, 2006;Morrison and Nevin, 1996;Parker et al, 2004;Wiesner and Snow-Bailey, 2005;Wray et al, 2008]. An FMTC family presents the clinical manifestation of MTC in at least four family members, with no clinical evidence of pheo, HPT, or MEN2B-specific clinical features .…”

Section: Introduction Multiple Endocrine Neoplasia Type 2 and The Retmentioning

confidence: 99%

Multiple endocrine neoplasia type 2RETprotooncogene database: Repository of MEN2-associatedRETsequence variation and reference for genotype/phenotype correlations

et al. 2009

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Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RETexons 10, 11, and 13-16. Our group has developed the publicly available, searchable MEN2 RET database to aid in genotype/phenotype correlations, using Human Genome Variation Society recommendations for sequence variation nomenclature and database content. The MEN2 RET database catalogs all RET sequence variation relevant to the MEN2 syndromes, with associated clinical information. Each database entry lists a RET sequence variation's location within the RET gene, genotype, pathogenicity classification, MEN2 phenotype, first literature reference, and comments (which may contain information on other clinical features, complex genotypes, and additional literature references). The MEN2 phenotype definitions were derived from the International RET Mutation Consortium guidelines for classification of MEN2 disease phenotypes. Although nearly all of the 132 RET sequence variation entries initially cataloged in the database were from literature reports, novel sequence variation and updated phenotypic information for any existing database entry can be submitted electronically on the database website. The database website also contains links to selected MEN2 literature reviews, gene and protein information, and RET reference sequences. The MEN2 RET database (www.arup.utah.edu/database/MEN2/ MEN2_welcome.php) will serve as a repository for MEN2-associated RET sequence variation and reference for RET genotype/MEN2 phenotype correlations.

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“…[41][42][43][44] Unusual evidences of the syndrome have been reported from several quarters. Duquia et al 16 As the syndrome has become more commonly recognized, several groups in the past 5 years have emphasized the importance of early diagnosis, a point pertinent to the present series.…”

Section: Discussionmentioning

confidence: 95%