{"title":"Clinico-radiological findings of men 2A syndrome and its genetic correlation: A case report with review of literature","authors":"Nishant Singhal MD , Shrikant Shukla MD , Nishant Mishra MD , Poonam Sherwani DNB, EDIR, DICRI, MICR , Jagapathi Babu MD, DM","doi":"10.1016/j.radcr.2025.01.005","DOIUrl":null,"url":null,"abstract":"<div><div>Multiple endocrine Neoplasia (MEN) is a rare inherited syndrome that occurs due to the RET (rearranged in trans infection) germline mutation. MEN 2a is more frequent followed by FTC and MEN 2B occurs less frequently. In this case report, we present a case of a 31-year-old female who presented with neck swelling and hypertension and was diagnosed with bilateral pheochromocytomas and medullary carcinoma of the thyroid. Genetic analysis identified heterozygous RET mutation and was consistent with MEN 2 A in exon 11. The patient underwent bilateral adrenalectomy, and medical management was given for medullary thyroid carcinoma.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 4","pages":"Pages 1998-2003"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1930043325000056","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/25 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Multiple endocrine Neoplasia (MEN) is a rare inherited syndrome that occurs due to the RET (rearranged in trans infection) germline mutation. MEN 2a is more frequent followed by FTC and MEN 2B occurs less frequently. In this case report, we present a case of a 31-year-old female who presented with neck swelling and hypertension and was diagnosed with bilateral pheochromocytomas and medullary carcinoma of the thyroid. Genetic analysis identified heterozygous RET mutation and was consistent with MEN 2 A in exon 11. The patient underwent bilateral adrenalectomy, and medical management was given for medullary thyroid carcinoma.
期刊介绍：
The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
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