Preferences help
enabled [disable] Abstract
Number of results
2014 | 9 | 3 | 424-430
Article title

Multiple endocrine neoplasia type 1: a case report and review of the literature

Title variants
Languages of publication
Multiple endocrine neoplasia syndrome, type 1 (MEN1) is an underdiagnosed autosomal dominant inherited cancer predisposition syndrome with inter- and intrafamilial variability without a known genotype-phenotype correlation. Disease is caused by mutations in the MEN1 gene located on chromosome 11, but other genes (CDKN1B, AIP) and mechanisms might be involved too. We performed retrospective case series study of MEN1 syndrome patient and his family and present our experience of management of genetically confirmed 9 MEN1 syndrome large family members from Lithuania with novel MEN1 gene mutation (MEN1 exon 6 - c. 879delT (p.Pro293Profs*76)) and delineate its clinical phenotype. At present the diagnosis of MEN1 syndrome must be established by direct mutation testing. MEN1 syndrome patients, their relatives and patients suspected of MEN1 are eligible for mutation testing. Patients with MEN1 have a shorter life expectancy than the general population. MEN1 patients and mutation carriers should be subjected to periodic screening in order to detect manifestations in an early stage. Early genetic diagnosis and subsequent periodic screening is associated with less morbidity and mortality at follow-up. Our study confirmed the absence of genotype-phenotype correlation and showed high intrafamilial clinical expression variability of the MEN1 syndrome.
Physical description
1 - 6 - 2014
8 - 7 - 2014
  • Vilnius University Hospital Santariskiu Klinikos, Hematology, Oncology and Transfusion Medicine Center, 08661, Vilnius, Lithuania
  • [1] Pieterman C.R., Vriens M.R., Dreijerink K.M., van der Luijt R.B., Valk G.D., Care for patients with multiple endocrine neoplasia type 1: the current evidence base, Fam Cancer, 2011, 10, 157–171[Crossref]
  • [2] Arnold A., Drezner M.K., Raby B.A., Mulder J.E., Multiple endocrine neoplasia type 1: Definition and genetics, 2012,
  • [3] Erdheim J., Zur normalen und pathologischen Histologie der Glandula Thyreoidea, Parathyreoidea und Hypophysis, Beitr Pathol Anat, 1903, 33, 158–263
  • [4] Underdahl L.O., Woolner L.B., Black B.M., Multiple endocrine adenomas; report of 8 cases in which the parathyroids, pituitary and pancreatic islets were involved, J Clin Endocrinol Metab, 1953, 13, 20–47[Crossref]
  • [5] Wermer P., Genetic aspects of adenomatosis of endocrine glands, Am J Med Sci, 1954, 16, 363–371[Crossref]
  • [6] Chandrasekharappa S.C., Guru S.C., Manickam P., Olufemi S.E., Collins F.S., Emmert-Buck M.R., et al., Positional cloning of the gene for multiple endocrine neoplasia-type 1, Science, 1997, 276, 404–407[Crossref]
  • [7] Kouvaraki M.A., Lee J.E., Shapiro S.E., Gagel R.F., Sherman S.I., Sellin R.V., et al., Genotypephenotype analysis in multiple endocrine neoplasia type 1, Arch Surg, 2002, 137, 641–647[Crossref]
  • [8] Bassett J.H., Forbes S.A., Pannett A.A., Lloyd S.E., Christie P.T., Wooding C., et al., Characterization of mutations in patients with multiple endocrine neoplasia type 1, Am J Hum Genet, 1998, 62, 232–244[Crossref]
  • [9] Carty S.E., Helm A.K., Amico J.A., Clarke M.R., Foley T.P., Watson C.G., et al., The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1, Surgery, 1998, 124, 1106–13, discussion 1113–1114[Crossref]
  • [10] Trump D., Farren B., Wooding C., Pang J.T., Besser G.M., Buchanan K.D., et al., Clinical studies of multiple endocrine neoplasia type 1 (MEN1), QJM, 1996, 89, 653–669[Crossref]
  • [11] Dean P.G., van Heerden J.A., Farley D.R., Thompson G.B., Grant C.S., Harmsen W.S., et al., Are patients with multiple endocrine neoplasia type I prone to premature death?, World J Surg, 2000, 24, 1437–1441[Crossref]
  • [12] Doherty G.M., Olson J.A., Frisella M.M., Lairmore T.C., Wells S.A. Jr., Norton J.A., Lethality of multiple endocrine neoplasia type I, World J Surg, 1998, 22, 581–6, discussion 586–587[Crossref]
  • [13] Geerdink E.A., Van der Luijt R.B., Lips C.J., Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?, Eur J Endocrinol, 2003, 149, 577–582
  • [14] Goudet P., Murat A., Binquet C., Cardot-Bauters C., Costa A., Ruszniewski P., et al., Risk factors and causes of death in MEN1 disease. A GTE (Groupe d’Etude des Tumeurs Endocrines) cohort study among 758 patients, World J Surg, 2010, 34, 249–255[Crossref]
  • [15] Taguchi R., Yamada M., Horiguchi K., Tomaru T., Ozawa A., Shibusawa N., et al., Haploinsufficient and predominant expression of multiple endocrine neoplasia type 1 (MEN1)-related genes, MLL, p27Kip1 and p18Ink4C in endocrine organs, Biochem Biophys Res Commun, 2011, 415, 378–383[Crossref][WoS]
  • [16] Arnold A., Drezner M.K., Mulder J.E., Multiple endocrine neoplasia type 1: Clinical manifestations and diagnosis, 2012,
  • [17] Guarnieri V., Baorda F., Corbetta S., Battista C., Spada A., D’Agruma L., et al., Identification and functional analysis of novel variants of CDKN1B (encoding p27Kip1) in sporadic parathyroid tumors from an Italian cohort, 113th International Workshop on Multiple Endocrine Neoplasia, Final Program & Abstract Book, 2012, 58
  • [18] Circelli L., Ramundo V., Marciello F., Del Prete M., Marotta V., Carratù A.C., et al., CDKN1B V109G polymorphism as a new putative prognostic factor in multiple endocrine neoplasia type 1 (MEN 1) patients, 113th International Workshop on Multiple Endocrine Neoplasia, Final Program & Abstract Book, 2012, 58–59
  • [19] Modlin I.M., Gustafsson B.I., Moss S.F., Pavel M., Tsolakis A.V., Kidd M., Chromogranin A - biological function and clinical utility in neuro endocrine tumor disease, Ann Surg Oncol, 2010, 17, 2427–2443[WoS][Crossref]
  • [20] Nikou G.C., Marinou K., Thomakos P., Papageorgiou D., Sanzanidis V., Nikolaou P., Kosmidis C., Moulakakis A., Mallas E, Chromogranin a levels in diagnosis, treatment and follow-up of 42 patients with non-functioning pancreatic endocrine tumours, Pancreatology, 2008, 8, 510–519[WoS][Crossref]
  • [21] O’Toole D., Grossman A., Gross D., Delle Fave G., Barkmanova J., O’Connor J., Pape U.F., Plöckinger U., Mallorca Consensus Conference participants, European Neuroendocrine Tumor Society, ENETS Consensus Guidelines for the Standards of Care in Neuroendocrine Tumors: biochemical markers, Neuroendocrinology, 2009, 90, 194–120[Crossref]
  • [22] Sciortino G., Vitale G., Manfredi G., Guizzardi F., Persani L., Different phenotypes of multiple endocrine neoplasia type 1 (MEN1): a case report of an Italian family, 13th International Workshop on Multiple Endocrine Neoplasia, Final Program & Abstract Book, 2012, 62–63
  • [23] Weisbrod A.B., Nilubol N., Weinstein L.S., Simonds W.F., Libutti S.K., Jensen R.T., et al., Association of Type-O Blood with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1, 13th International Workshop on Multiple Endocrine Neoplasia, Final Program & Abstract Book, 2012, 50
  • [24] Faggiano A., Tavares L.B., Tauchmanova L., Milone F., Mansueto G., Ramundo V., De Caro M.L., Lombardi G., De Rosa G., Colao A., Effect of treatment with depot somatostatin analogue octreotide on primary hyperparathyroidism (PHP) in multiple endocrine neoplasia type 1 (MEN1) patients, Clin Endocrinol (Oxf), 2008, 69, 756–762[Crossref]
  • [25] Burgess J.R., Greenaway T.M., Parameswaran V., Shepherd J.J., Octreotide improves biochemical, radiologic, and symptomatic indices of gastroenteropancreatic neoplasia in patients with multiple endocrine neoplasia type 1 (MEN-1), Implications for an integrated model of MEN-1 tumorigenesis, Cancer, 1999, 86, 2154–2159<2154::AID-CNCR39>3.0.CO;2-W[Crossref]
  • [26] Ramage J.K., Ahmed A., Ardill J., Bax N., Breen D.J., Caplin M.E., Corrie P., Davar J., Davies A.H., Lewington V., Meyer T., Newell-Price J., Poston G., Reed N., Rockall A., Steward W., Thakker R.V., Toubanakis C., Valle J., Verbeke C., Grossman A.B., Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs), Gut, 2012, 61, 6–32[WoS][Crossref]
  • [27] Arnold A., Snyder P.J., Drezner M.K., Mulder J.E., et al., Multiple endocrine neoplasia type 1: Treatment, 2012,
  • [28] Lopez C.L., Waldmann J., Fendrich V., Langer P., Kann P.H., Bartsch D.K., et al., Long-term results of surgery for pancreatic neuroendocrine neoplasms in patients with MEN1, Langenbecks Arch Surg, 2011, 396, 1187–1196[Crossref]
  • [29] Huang L.C., Poultsides G.A., Norton J.A., Surgical Management of Neuroendocrine Tumors of the Gastrointestinal Tract, Oncology (Williston Park), 2011, 25, 794–803
Document Type
Publication order reference
YADDA identifier
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.