Multiple endocrine neoplasia 2: an overview

Saravana-Bawan, Bianka; Pasternak, JD

doi:10.1177/20406223221079246

Cited by 5 publications

(2 citation statements)

References 60 publications

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“…Characteristic habitus, marfanoid. Patients with MEN 2B can develop a characteristic appearance called Marfan-like habitus [34], but this did not occur in the patient in the presented case report. Patients with Marfan-like habitus present with pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, and lens subluxation [35].…”

Section: Ganglioneuromatous Polyposismentioning

confidence: 59%

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) – case report

Rycyk-Bojarzyńska,

Kasztelan-Szczerbińska,

Cichoż-Lach

et al. 2023

Ann Agric Environ Med.

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Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenomas, ganglioneuromas of the digestive tract, and musculoskeletal abnormalities. The case is presented of a 31-year-old male patient with numerous polyps in the colon described as ganglioneuromas which are ectodermal neoplasms emerging from a proliferation of ganglionic cells of the sympathetic nervous system. The results show elevated levels of normetanephrine, which is an endogenous catecholamine metabolite, and has high diagnostic sensitivity as well as specificity in pheochromocytoma detection. The patient underwent partial thyreoidectomy due to a nodular goiter. He was admitted to the Department of Gastroenterology to lead a diagnostic pathway towards MEN 2B.

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Section: Ganglioneuromatous Polyposismentioning

confidence: 59%

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) – case report

Rycyk-Bojarzyńska,

Kasztelan-Szczerbińska,

Cichoż-Lach

et al. 2023

Ann Agric Environ Med.

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“…Nevertheless, the majority of the cases exhibited the highest countenance for 634, followed by a diminishing manner for codons 609, 618, and 620 [ 16 , 17 , 18 , 19 ]. Recent geographical reports regarding the spectrum of pathogenic variants reported in the RET gene in individuals with MEN2 have also brought to light the clinically less aggressive forms of the disease, as a result of mutations in exons 13–15 of the gene [ 1 , 20 , 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Neocleous

Fanis

Frangos

et al. 2023

Life

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Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant (AD) condition with very high penetrance and expressivity. It is characterized into three clinical entities recognized as MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). In both MEN2A and MEN2B, there is a manifestation of multicentric tumor formation in the major organs such as the thyroid, parathyroid, and adrenal glands where the RET proto-oncogene is expressed. The FMTC form differs from MEN2A and MEN2B, since medullary thyroid carcinoma (MTC) is the only feature observed. In this present brief report, we demonstrate a collection of RET proto-oncogene genotype data from countries around the Mediterranean Basin with variable characteristics. As expected, a great extent of the Mediterranean RET proto-oncogene genotype data resemble the data reported globally. Most interestingly, higher frequencies are observed in the Mediterranean region for specific pathogenic RET variants as a result of local prevalence. The latter can be explained by founder effect phenomena. The Mediterranean epidemiological data that are presented herein are very important for domestic patients, their family members’ evaluation, and ultimately their treatment.

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