PMID- 38152096 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20231229 IS - 1450-1147 (Print) IS - 1607-3312 (Electronic) IS - 1450-1147 (Linking) VI - 22 IP - 4 DP - 2023 Dec TI - Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation. PG - 284-288 LID - 10.1055/s-0043-1768448 [doi] AB - 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 (68) Ga-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. CI - The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ). FAU - Kalshetty, Ashwini AU - Kalshetty A AUID- ORCID: 0000-0003-0551-7175 AD - Radiation Medicine Centre, Tata Memorial Hospital Annexe, BARC, Mumbai, Maharashtra, India. AD - Radiation Medicine Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India. FAU - Chalikandy, Ashwini AU - Chalikandy A AUID- ORCID: 0000-0003-2948-8305 AD - Radiation Medicine Centre, Tata Memorial Hospital Annexe, BARC, Mumbai, Maharashtra, India. LA - eng PT - Case Reports DEP - 20231204 PL - Germany TA - World J Nucl Med JT - World journal of nuclear medicine JID - 101286955 PMC - PMC10751111 OTO - NOTNLM OT - MEN1 OT - NET OT - PET-CT OT - genetic OT - hyperparathyroidism OT - phenocopies COIS- Conflict of Interest None declared. EDAT- 2023/12/28 06:42 MHDA- 2023/12/28 06:43 PMCR- 2023/12/01 CRDT- 2023/12/28 03:57 PHST- 2023/12/28 06:43 [medline] PHST- 2023/12/28 06:42 [pubmed] PHST- 2023/12/28 03:57 [entrez] PHST- 2023/12/01 00:00 [pmc-release] AID - WJNM-23-1-0004 [pii] AID - 10.1055/s-0043-1768448 [doi] PST - epublish SO - World J Nucl Med. 2023 Dec 4;22(4):284-288. doi: 10.1055/s-0043-1768448. eCollection 2023 Dec.