{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:02:56Z","timestamp":1771927376923,"version":"3.50.1"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:00:00Z","timestamp":1769126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited disease characterized by the combined occurrence of tumors in multiple endocrine organs. As a rare disease, the clinical manifestations of MEN1 are currently considered to be associated with the development of combinations of more than 20 different tumors, such as parathyroid adenomas, neuroendocrine tumors, pituitary tumors, as well as lipomas, thymic carcinoids, pheochromocytomas, adrenal adenomas, and ovarian tumors. However, the concurrent occurrence of MEN1 and teratoma is extremely rare in reported cases to date. Herein, we report a case of a female patient with MEN1 who was diagnosed with teratoma. Genetic testing identified the NM_130799.2: c.512G&amp;gt;A (p.Arg171Gln) variant, which was classified as a variant of uncertain significance (VUS). After extracting whole blood DNA from the patient and her relatives (7 individuals in total) for genetic testing, this mutation was found to be present in multiple members of the family, including some who were affected by MEN1. This finding suggests the potential pathogenicity of the mutation, although further research and longer-term follow-up are required to confirm this observation.<\/jats:p>","DOI":"10.3389\/fendo.2026.1747257","type":"journal-article","created":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T06:48:11Z","timestamp":1769150891000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Investigation and characterization of a multiple endocrine neoplasia type 1 case and its pedigree"],"prefix":"10.3389","volume":"17","author":[{"given":"Yifan","family":"Liu","sequence":"first","affiliation":[{"name":"Clinical Medicine Department, The Second Affiliated Hospital of China Medical University","place":["Shenyang, Liaoning, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Geriatric Endocrinology, The First Affiliated Hospital of China Medical University","place":["Shenyang, Liaoning, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiwei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology, The First Affiliated Hospital of China Medical University","place":["Shenyang, Liaoning, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Geriatric Endocrinology, The First Affiliated Hospital of China Medical University","place":["Shenyang, Liaoning, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Geriatric Endocrinology, The First Affiliated Hospital of China Medical University","place":["Shenyang, Liaoning, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Geriatric Endocrinology, The First Affiliated Hospital of China Medical University","place":["Shenyang, Liaoning, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5311.404","article-title":"Positional cloning of the gene for multiple endocrine neoplasia-type 1","volume":"276","author":"Chandrasekharappa","year":"1997","journal-title":"Science"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1177","article-title":"Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1","volume":"6","author":"Lemmens","year":"1997","journal-title":"Hum Mol Genet"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/s0378-1119(00)00562-x","article-title":"Characterization of a MEN1 ortholog from Drosophila melanogaster","volume":"263","author":"Guru","year":"2001","journal-title":"Gene"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s003359901051","article-title":"Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene","volume":"10","author":"Guru","year":"1999","journal-title":"Mamm Genome"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202164","article-title":"Characterization of the mouse Men1 gene and its expression during development","volume":"17","author":"Stewart","year":"1998","journal-title":"Oncogene"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1038\/nm1187","article-title":"Deletion of Cdkn1b ameliorates hyperglycemia by maintaining compensatory hyperinsulinemia in diabetic mice","volume":"11","author":"Uchida","year":"2005","journal-title":"Nat Med"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.3390\/genes15091231","article-title":"Menin in cancer","volume":"15","author":"Majer","year":"2024","journal-title":"Genes (Basel)"},{"key":"B8","year":""},{"key":"B9","doi-asserted-by":"publisher","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-021-00468-3","article-title":"Clinical aspects of multiple endocrine neoplasia type 1","volume":"17","author":"Al-Salameh","year":"2021","journal-title":"Nat Rev Endocrinol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1507\/endocrj.ej12-0071","article-title":"Delay in the diagnosis of multiple endocrine neoplasia type 1: typical symptoms are frequently overlooked","volume":"59","author":"Yamazaki","year":"2012","journal-title":"Endocr J"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0163-2","article-title":"Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene","volume":"49","author":"Balogh","year":"2004","journal-title":"J Hum Genet"},{"key":"B13","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1111\/j.1365-2265.2008.03193.x","article-title":"Isolated R171Q amino acid change in MEN1 gene: polymorphism or mutation","volume":"69","author":"De Carlo","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B14","article-title":"Phenotype and genotype of patients with multiple endocrine neoplasia type 1 studied in Argentina","volume":"84","author":"Fainstein-Day","year":"2024","journal-title":"Med (B Aires)"},{"key":"B15","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1111\/j.1365-2265.2011.04027.x","article-title":"Evaluation of MEN1 risk in individuals bearing R171Q. R171Q - single nucleotide polymorphism (SNP) or not SNP - that is the question","volume":"75","author":"Lampichler","year":"2011","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2011.02055.x","article-title":"Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms","volume":"102","author":"Shimazu","year":"2011","journal-title":"Cancer Sci"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1406028","article-title":"Breast-cancer predisposition in multiple endocrine neoplasia type 1","volume":"371","author":"Dreijerink","year":"2014","journal-title":"N Engl J Med"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1142\/s0219633620410023","article-title":"In-silico analysis to identify the role of MEN1 missense mutations in breast cancer","volume":"19","author":"Ganakammal","year":"2020","journal-title":"J Theor Comput Chem"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-024-01874-9","article-title":"In vivo CRISPR screens identify a dual function of MEN1 in regulating tumor-microenvironment interactions","volume":"56","author":"Su","year":"2024","journal-title":"Nat Genet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/j.tibs.2013.05.005","article-title":"Menin: a scaffold protein that controls gene expression and cell signaling","volume":"38","author":"Matkar","year":"2013","journal-title":"Trends Biochem Sci"},{"key":"B21","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1186\/s12935-022-02740-6","article-title":"Combinatorial targeting of menin and the histone methyltransferase DOT1L as a novel therapeutic strategy for treatment of chemotherapy-resistant ovarian cancer","volume":"22","author":"Alexandrova","year":"2022","journal-title":"Cancer Cell Int"},{"key":"B22","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1530\/EDM-19-0040","article-title":"Clinical presentation and management of primary ovarian neuroendocrine tumor in multiple endocrine neoplasia type 1","volume":"2019","author":"Jhawar","year":"2019","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2019.00365","article-title":"First case of mature teratoma and yolk sac testis tumor associated to inherited MEN-1 syndrome","volume":"10","author":"Chiloiro","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B24","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/S2213-8587(25)00119-6","article-title":"Multiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice","volume":"13","author":"Brandi","year":"2025","journal-title":"Lancet Diabetes Endocrinol"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1747257\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T09:10:41Z","timestamp":1771924241000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2026.1747257\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,23]]},"references-count":24,"alternative-id":["10.3389\/fendo.2026.1747257"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2026.1747257","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,23]]},"article-number":"1747257"}}