{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:57Z","timestamp":1740164157278,"version":"3.37.3"},"reference-count":11,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T00:00:00Z","timestamp":1701648000000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World J Nucl Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple endocrine neoplasia, type 1 (MEN1) syndrome is an autosomal dominant disease characterized by tumors involving parathyroid, pituitary, and pancreas. The diagnosis is mostly clinical and by the presence of MEN1 gene mutation. We present a case with initial presentation of neuroendocrine tumor of pancreas whose ancillary findings on 68Ga-DOTATATE positron emission tomography-computed tomography helped in raising suspicion of MEN1, which was confirmed on genetic testing and family history. We emphasize the importance of using gestalt approach in such cases to avoid misdiagnosis or delay. Additionally, we describe the clinical profile of affected family members with their MEN1 gene mutation status, highlighting the gestalt approach again to uncover the unknowns.<\/jats:p>","DOI":"10.1055\/s-0043-1768448","type":"journal-article","created":{"date-parts":[[2023,12,5]],"date-time":"2023-12-05T00:43:36Z","timestamp":1701737016000},"page":"284-288","source":"Crossref","is-referenced-by-count":1,"title":["Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation"],"prefix":"10.1055","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0551-7175","authenticated-orcid":false,"given":"Ashwini","family":"Kalshetty","sequence":"additional","affiliation":[{"name":"Radiation Medicine Centre, Tata Memorial Hospital Annexe, BARC, Mumbai, Maharashtra, India"},{"name":"Radiation Medicine Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2948-8305","authenticated-orcid":false,"given":"Ashwini","family":"Chalikandy","sequence":"additional","affiliation":[{"name":"Radiation Medicine Centre, Tata Memorial Hospital Annexe, BARC, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,12,4]]},"reference":[{"issue":"09","key":"ref1","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"R V Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"339","DOI":"10.3389\/fendo.2019.00339","article-title":"Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis","volume":"10","author":"C DC Kamilaris","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"key":"ref3","first-page":"108","article-title":"Multiple endocrine neoplasia type 1: from bedside to benchside","volume":"47","author":"K Yoshimoto","year":"2000","journal-title":"J Med Invest"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1530\/EDM-19-0156","article-title":"18F-FDOPA PET\/CT accurately identifies MEN1-associated pheochromocytoma","volume":"2020","author":"A A Tepede","year":"2020","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"E1089","DOI":"10.1002\/humu.21170","article-title":"Diagnostic challenges due to phenocopies: lessons from multiple endocrine neoplasia type1 (MEN1)","volume":"31","author":"J J Turner","year":"2010","journal-title":"Hum Mutat"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"F1000","DOI":"10.12688\/f1000research.7230.1","article-title":"Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old.","volume":"6","author":"A Falchetti","year":"2017","journal-title":"F1000Res."},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s12020-019-01932-x","article-title":"True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome","volume":"65","author":"A K\u00f6vesdi","year":"2019","journal-title":"Endocrine"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"591501","DOI":"10.3389\/fendo.2020.591501","article-title":"Phenotypes associated with MEN1 syndrome: a focus on genotype-phenotype correlations","volume":"11","author":"C Mele","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"07","key":"ref9","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1007\/s00259-016-3319-3","article-title":"Evaluation of (68)Ga-DOTA-TOC PET\/CT for the detection of duodenopancreatic neuroendocrine tumors in patients with MEN1","volume":"43","author":"C Morgat","year":"2016","journal-title":"Eur J Nucl Med Mol Imaging"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.jamcollsurg.2015.04.005","article-title":"Results of (68)Gallium-DOTATATE PET\/CT scanning in patients with multiple endocrine neoplasia type 1","volume":"221","author":"S M Sadowski","year":"2015","journal-title":"J Am Coll Surg"},{"issue":"03","key":"ref11","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1007\/s12020-015-0702-y","article-title":"Role of (68)Ga-DOTATATE PET\/CT in patients with multiple endocrine neoplasia type 1 (MEN1)","volume":"52","author":"S Lastoria","year":"2016","journal-title":"Endocrine"}],"container-title":["World Journal of Nuclear Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1768448.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T23:41:03Z","timestamp":1703634063000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1768448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":11,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2023,12,26]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1768448","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["1450-1147","1607-3312"],"issn-type":[{"type":"print","value":"1450-1147"},{"type":"electronic","value":"1607-3312"}],"subject":[],"published":{"date-parts":[[2023,12]]}}}