{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:45Z","timestamp":1784557005614,"version":"3.55.0"},"reference-count":16,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,6,1]]},"abstract":"Summary<\/jats:title>\n \n Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease characterized by tumors in endocrine and\/or non endocrine organs due to mutations in\n MEN1<\/jats:italic>\n encoding a nuclear scaffold protein\u2018menin\u2019 involved in regulation of different cellular activities. We report a novel 14\u200abp\n MEN1<\/jats:italic>\n deletion mutation in a 35-year-old female with history of recurrent epigastric pain, vomiting, loose stools and weight loss. On evaluation she was diagnosed to have multifocal gastro-duodenal gastrinoma with paraduodenal lymph nodes and solitary liver metastasis. She was also found to have primary hyperparathyroidism with bilateral inferior parathyroid adenoma. Pancreatico-duodenectomy with truncalvagotomy was performed. Four months later, radiofrequency ablation (RFA) of segment 4 of the liver was done followed by three and a half parathyroidectomy.\n MEN1<\/jats:italic>\n screening was carried out for the patient and her family members.\n MEN-1<\/jats:italic>\n sequencing in the patient revealed a heterozygous 14\u200abp exon 8 deletion. Evaluation for pathogenicity and protein structure prediction showed that the mutation led to a frameshift thereby causing premature termination resulting in a truncated protein. To conclude, a novel pathogenic\n MEN1<\/jats:italic>\n deletion mutation affecting its function was identified in a patient with hyperparathyroidism and gastrinoma. The report highlights the clinical consequences of the novel mutation and its impact on the structure and function of the protein. It also provides evidence for co-existence of pancreatic and duodenal gastrinomas in MEN1 syndrome.\n MEN1<\/jats:italic>\n testing provides important clues regarding etiology and therefore should be essentially undertaken in asymptomatic first degree relatives who could be potential carriers of the disease.\n <\/jats:p>\n \n Learning points<\/jats:title>\n \n \n \n \n Identification of a novel pathogenic\n MEN1<\/jats:italic>\n deletion mutation.\n <\/jats:p>\n <\/jats:list-item>\n \n \n MEN1<\/jats:italic>\n mutation screening in patients with pituitary, parathyroid and pancreatic tumors, and their first degree relatives gives important clues about the etiology.\n <\/jats:p>\n <\/jats:list-item>\n \n Pancreatic and duodenal gastrinomas may co-exist simultaneously in MEN1 syndrome.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/edm-15-0011","type":"journal-article","created":{"date-parts":[[2015,6,2]],"date-time":"2015-06-02T05:29:04Z","timestamp":1433222944000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Impact of a novel 14\u200abp MEN1 deletion in a patient with hyperparathyroidism and gastrinoma"],"prefix":"10.1530","volume":"2015","author":[{"given":"Shweta","family":"Birla","sequence":"first","affiliation":[{"name":"Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viveka","family":"P Jyotsna","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajiv","family":"Singla","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhavi","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi 110029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arundhati","family":"Sharma","sequence":"additional","affiliation":[{"name":"Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"American Journal of Medicine","first-page":"363","article-title":"Genetic aspects of adenomatosis of endocrine glands","volume":"16","author":"Wermer","year":"1954","unstructured":"Wermer P\n\n 1954 Genetic aspects of adenomatosis of endocrine glands. American Journal of Medicine 16 363\u2013371. (doi:10.1016\/0002-9343(54)90353-8)"},{"key":"bib2","series-title":"Molecular and Cellular Endocrinology","first-page":"2","article-title":"Multiple endocrine neoplasia type 1(MEN1) and type 4 (MEN4)","volume":"386","author":"Thakker","year":"2014","unstructured":"Thakker RV\n\n 2014 Multiple endocrine neoplasia type 1(MEN1) and type 4 (MEN4). Molecular and Cellular Endocrinology 386 2\u201315. (doi:10.1016\/j.mce.2013.08.002)"},{"key":"bib3","series-title":"American Journal of Medicine","first-page":"731","article-title":"Hyperparathyroidism presenting as the first lesion in multi-ple endocrine neoplasia type 1","volume":"82","author":"Benson","year":"1987","unstructured":"Benson L\n \nLjunghall S\n \nAkerstr\u00f6m G\n & \nOberg K\n\n 1987 Hyperparathyroidism presenting as the first lesion in multi-ple endocrine neoplasia type 1. American Journal of Medicine 82 731\u2013737. (doi:10.1016\/0002-9343(87)90008-8)"},{"key":"bib4","series-title":"Annals of Internal Medicine","first-page":"484","article-title":"Multiple endocrine neoplasia type 1: clinical and genetic topics","volume":"129","author":"Marx","year":"1998","unstructured":"Marx S\n \nSpiegel AM\n \nSkarulis MC\n \nDoppman JL\n \nCollins FS\n & \nLiotta LA\n\n 1998 Multiple endocrine neoplasia type 1: clinical and genetic topics. Annals of Internal Medicine 129 484\u2013494. (doi:10.7326\/0003-4819-129-6-199809150-00011)"},{"key":"bib5","series-title":"Nature Protocols","first-page":"363","article-title":"Protein structure prediction on the web: a case study using the Phyre server","volume":"4","author":"Kelley","year":"2009","unstructured":"Kelley LA\n & \nSternberg MJ\n\n 2009 Protein structure prediction on the web: a case study using the Phyre server. Nature Protocols 4 363\u2013371. (doi:10.1038\/nprot.2009.2)"},{"key":"bib6","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2990","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"Thakker","year":"2012","unstructured":"Thakker RV\n \nNewey PJ\n \nWalls GV\n \nBilezikian J\n \nDralle H\n \nEbeling PR\n \nMelmed S\n \nSakurai A\n \nTonelli F\n \nBrandi ML\n 2012 Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). Journal of Clinical Endocrinology and Metabolism 97 2990\u20133011. (doi:10.1210\/jc.2012-1230)"},{"key":"bib7","series-title":"Human Mutation","first-page":"E1089","article-title":"Diagnostic challenges due to phenocopies: lessons from multiple endocrine neoplasia type 1 (MEN1)","volume":"31","author":"Turner","year":"2010","unstructured":"Turner JJ\n \nChristie PT\n \nPearce SH\n \nTurnpenny PD\n & \nThakker RV\n\n 2010 Diagnostic challenges due to phenocopies: lessons from multiple endocrine neoplasia type 1 (MEN1). Human Mutation 31 E1089\u2013E1101. (doi:10.1002\/humu.21170)"},{"key":"bib8","series-title":"Trends in Endocrinology and Metabolism","first-page":"357","article-title":"Menin and its interacting proteins: elucidation of menin function","volume":"17","author":"Balogh","year":"2006","unstructured":"Balogh K\n \nR\u00e1cz K\n \nPat\u00f3cs A\n & \nHunyady L\n\n 2006 Menin and its interacting proteins: elucidation of menin function. Trends in Endocrinology and Metabolism 17 357\u2013364. (doi:10.1016\/j.tem.2006.09.004)"},{"key":"bib9","series-title":"Human Mutation","first-page":"22","article-title":"Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene","volume":"29","author":"Lemos","year":"2008","unstructured":"Lemos MC\n & \nThakker RV\n\n 2008 Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Human Mutation 29 22\u201332. (doi:10.1002\/humu.20605)"},{"key":"bib10","series-title":"PNAS","first-page":"1630","article-title":"Menin, the product of the MEN1 gene, is a nuclear protein","volume":"95","author":"Guru","year":"1998","unstructured":"Guru SC\n \nGoldsmith PK\n \nBurns AL\n \nMarx SJ\n \nSpiegel AM\n \nCollins FS\n & \nChandrasekharappa SC\n\n 1998 Menin, the product of the MEN1 gene, is a nuclear protein. PNAS 95 1630\u20131634. (doi:10.1073\/pnas.95.4.1630)"},{"key":"bib11","series-title":"Oncogene","first-page":"3537","article-title":"Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression","volume":"25","author":"La","year":"2006","unstructured":"La P\n \nDesmond A\n \nHou Z\n \nSilva AC\n \nSchnepp RW\n & \nHua X\n\n 2006 Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. Oncogene 25 3537\u20133546. (doi:10.1038\/sj.onc.1209400)"},{"key":"bib12","series-title":"Gastroenterology","first-page":"1637","article-title":"Determinants of metastatic rate and survival in patients with Zollinger\u2013Ellison syndrome: a prospective long-term study","volume":"108","author":"Weber","year":"1995","unstructured":"Weber HC\n \nVenzon DJ\n \nLin JT\n \nFishbein VA\n \nOrbuch M\n \nStrader DB\n \nGibril F\n \nMetz DC\n \nFraker DL\n \nNorton JA\n 1995 Determinants of metastatic rate and survival in patients with Zollinger\u2013Ellison syndrome: a prospective long-term study. Gastroenterology 108 1637\u20131649. (doi:10.1016\/0016-5085(95)90124-8)"},{"key":"bib13","series-title":"Journal of Clinical Endocrinology","first-page":"2420","article-title":"Growth of newly diagnosed, untreated metastatic gastrinomas and predictors of growth patterns","volume":"15","author":"Sutliff","year":"1997","unstructured":"Sutliff VE\n \nDoppman JL\n \nGibril F\n \nVenzon DJ\n \nYu F\n \nSerrano J\n & \nJensen RT\n\n 1997 Growth of newly diagnosed, untreated metastatic gastrinomas and predictors of growth patterns. Journal of Clinical Endocrinology 15 2420\u20132431."},{"key":"bib14","series-title":"Surgery","first-page":"1081","article-title":"The surgical treatment of gastrinoma in MEN I syndrome patients","volume":"106","author":"Thompson","year":"1989","unstructured":"Thompson NW\n \nBondeson AG\n \nBondeson L\n & \nVinik A\n\n 1989 The surgical treatment of gastrinoma in MEN I syndrome patients. Surgery 106 1081\u20131086."},{"key":"bib15","series-title":"New England Journal of Medicine","first-page":"723","article-title":"Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger\u2013Ellison syndrome","volume":"322","author":"Pipeleers-Marichal","year":"1990","unstructured":"Pipeleers-Marichal M\n \nSomers G\n \nWillems G\n \nFoulis A\n \nImrie C\n \nBishop AE\n \nPolak JM\n \nH\u00e4cki WH\n \nStamm B\n & \nHeitz PU\n\n 1990 Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger\u2013Ellison syndrome. New England Journal of Medicine 322 723\u2013727. (doi:10.1056\/NEJM199003153221103)"},{"key":"bib16","series-title":"World Journal of Gastroenterology","first-page":"1343","article-title":"Biochemically curative surgery for gastrinoma in multiple endocrine neoplasia type 1 patients","volume":"17","author":"Imamura","year":"2011","unstructured":"Imamura M\n \nKomoto I\n \nOta S\n \nHiratsuka T\n \nKosugi S\n \nDoi R\n \nAwane M\n & \nInoue N\n\n 2011 Biochemically curative surgery for gastrinoma in multiple endocrine neoplasia type 1 patients. World Journal of Gastroenterology 17 1343\u20131353. (doi:10.3748\/wjg.v17.i10.1343)"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2015\/1\/EDM15-0011.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2015\/1\/EDM15-0011.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2015\/1\/EDM15-0011.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:03Z","timestamp":1784555163000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,1]]},"references-count":16,"URL":"https:\/\/doi.org\/10.1530\/edm-15-0011","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,1]]}}}