Néoplasie endocrinienne multiple de type 1 : De la clinique au gène

Betea, Daniela; Valdes Socin, Hernan Gonzalo; Vanbellinghen, Jean-François; Beckers, Albert

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Néoplasie endocrinienne multiple de type 1 : De la clinique au gène

Betea, Daniela; Valdes Socin, Hernan Gonzalo; Vanbellinghen, Jean-François et al.

2003 • In Feuillets de Biologie, 44 (250), p. 39-48

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Keywords :

néoplasie endocrinienne; type 1; NEM 1

Abstract :

[fr] La Néoplasie Endocrinienne Multiple de type 1 (NEM 1), syndrome génétique à transmission autosomique dominante, est caractérisée principalement par l'atteinte des parathyroïdes, du tractus gastro-entéro-pancréatique et de l'antéhypophyse. Les manifestations cliniques de ce syndrome sont polymorphes. En fonction de l'organe affecté elles peuvent se manifester par l'hypersécrétion hormonale, par un syndrome de masse dû à la taille tumorale, ou parfois par l'apparition d'un cancer. Le gène responsable de la NEM 1 a été identifié sur le chromosome 11, locus 11q13. Il s'agit d'un gène supresseur de tumeur qui code pour une protéine dénommée ménine. Dans cet article nous aborderons les aspects cliniques et génétiques typiques de cette affection.

Disciplines :

Endocrinology, metabolism & nutrition

Author, co-author :

Betea, Daniela ; Université de Liège - ULiège > Endocrinologie clinique

Valdes Socin, Hernan Gonzalo ; Université de Liège - ULiège > Endocrinologie clinique

Vanbellinghen, Jean-François ; Université de Liège - ULiège > Centre de diagnostic moleculaire

Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie

Language :

French

Title :

Néoplasie endocrinienne multiple de type 1 : De la clinique au gène

Publication date :

2003

Journal title :

Feuillets de Biologie

ISSN :

0428-2779

Publisher :

Orion, France

Volume :

Issue :

250

Pages :

39-48

Available on ORBi :

since 17 May 2010

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Bibliography

Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell. 1999 Jan 8 ; 96 (1) : 143-52.
Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Green JS, Guru SC, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet. 1997 ; 6 (7) : 1169-75.
Asa SL, Somers K, Ezzat S. The MEN-1 gene is rarely down-regulated in pituitary adenomas. J Clin Endocrinol Metab. 1998 ; 83 (9) : 3210-2.
Ballard HS, Frame B, Hardstock RJ. Familial multiple endocrine adenoma-peptic ucler complex. Medicine. 1964 ; 43 : 481-516.
Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet. 1998 ; 62 (2) : 232-44.
Beckers A, Stevenaert A, Mashiter K, Hennen G. Follicle-stimulating hormone-secreting pituitary adenomas. J Clin Endocrinol Metab. 1985 Sep ; 61 (3) : 525-8.
Beckers A, Abs R, Willems PJ, van der Auwera Bn Kovacs K, Reznik M, Stevenaert A. Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus. J Clin Endocrinol Metab. 1992 Aug ; 75 (2) : 564-70.
Beckers A, Abs R, Reyniers E, De Boulle K, Stevenaert A, Heller FR, Kloppel G, Meurisse M, Willems PJ. Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome. J Clin Endocrinol Metab. 1994 Nov ; 79 (5) : 1498-502.
Beckers A. Contributions à l'étude de l'étiologie, de la physiopathologie et du traitement des adénomes hypophysaires. Thèse d'Agrégation de l'Enseignement Supérieur, Ulg 1995.
Betea D, Valdes Socin H, Beckers A : Pituitary pathology and MEN 1. (Ann Endocrinol (Paris). 2000 ; 61 (3) : 214-23.
Brandi ML :Multiple endocrine neoplasia type I: general features and new insights into etiology. J Endocrinol Invest. 1991 Jan ; 14 (1) : 61-72.
Burgess JR, Shepherd JJ, Parameswaran V, Hoffman L, Greenaway TM : Somatotmphinomas in multiple endocrine neoplasia type 1: a review of clinical phenotype and insulin-like growth factor-1 levels in a large multiple endocrine neoplasia type 1 kindred. Am J Med. 1996 May ; 100 (5) : 544-7.
Burgess JR, Shepherd J, Parameswaran V, Hoffman L, Greenaway TM. (Spectrum of pituitary disease in multiple endocrine neoplasia type 1 (MEN 1) : clinical, biochemical, and radiological features of pituitary disease in a large MEN 1 kindred. (J Clin Endocrinol Metab. 1996 Jul ; 81 (7) : 2642-6.
Burgess JR, Greenaway TM, Shepherd Professeur JJ. Expression of the MEN-1 gene in a large kindred with multiple endocrine neoplasia type 1. J Intern Med. 1998 Jun ; 243 (6) : 465-70.
Burgess JR, David R, Parameswaran V, Greenaway TM, Shepherd JJ. The outcome of subtotal parathyroidectomy for the treatment of hyperparathyroidism in multiple endocrine neoplasia type 1. Arch Surg. 1998 Feb ; 133 (2) : 126-9.
Cadiot G, Vuagnat A, Doukhan I, Murat A, Bonnaud G, Delemer B, Thiefin G, Beckers A, Veyrac M, Proye C, Ruszniewski P, Mignon M. Prognostic factors in patients with Zollinger-Ellison syndrome and multiple endocrine neoplasia type 1. Groupe d'Etude des Neoplasies Endocriniennes Multiples (GENEM and groupe de Recherche et d'Etude du Syndrome de Zollinger-Ellison (GRESZE). Gastroenterology. 1999 ; 116 (2) : 286-93.
Calender A, Giraud S, Porchet N, Gaudray P, Cadiot G, Mignon M. Clinicogenetic study of MEN1: recent physiopathological data and clinical applications. Study Group of Multiple Endocrine Neoplasia (GENEM). Ann Endocrinol (Paris). 1998 ; 59 (6) : 444-51.
Carty SE, Helm AK, Amico JA, Clarke MR, Foley TP, Watson CG, Mulvihill JJ. The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. Surgery. 1998 ; 124 (6) : 1106-13.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997 18 ; 276 (5311) : 404-7.
Chanson P, Murat A, Cadiot G, Calender A and GENEM. Type 1 Multiple Endocrine Neoplasia mt Endocrinologie. 1999 ; 1 (3) : 244-258.
Corbetta S, Pizzocaro A, Peracchi M, Beck-Peccoz P, Faglia G, Spada A. Multiple endocrine neoplasia type 1 in patients with recognized pituitary tumours of different types. Clin Endocrinol (Oxf). 1997 ; 47 (5) : 507-12.
Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci USA. 2001 Jan 30 ; 98 (3) : 1118-23.
Dean PG, van Heerden JA, Farley DR, Thompson GB, Grant CS, Harmsen WS, Ilstrup DM .Are patients with multiple endocrine neoplasia type I prone to premature death? (World J Surg. 2000 ; 24 (11) : 1437-41.
Darling TH, Skarulis M, Steinberg SM, Marx SJ, Spiegel AM, Turner M. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol. 1997 Jul ; 133 (7) : 853-7.
Dotzenrath C, Goretzki PE, Cupisti K, Yang Q, Simon D, Roher HD. Malignant endocrine tumors in patients with MEN 1 disease. Surgery. 2001 ; 129 (1) : 91-5.
Farid NR, Beuhler S, Russell NA, Maroun FB, Allerdice P. Prolactinomas in Familial Multiple Endocrine Neoplasia Type 1 : Relationship to HLA and Carcinoid Tumors. AM J Med 1980 ; 69 : 874-880.
Giraud S, Choplin H, Teh BT, Lespinasse J, Jouvet A, Labat-Moleur F, Lenoir G, Hamon B, Hamon P, Calender A.:A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab. 1997 ; 82 (10) : 3487-92.
Goebel SU, Heppner C, Burns AL, Marx SJ, Spiegel AM, Zhuang Z, Lubensky IA, Gibril F, Jensen RT, Serrano J. Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas. J Clin Endocrinol Metab. 2000 ; 85 (1) : 116-23.
Granberg D, Stridsberg M, Seensalu R, Eriksson B, Lundqvist G, Oberg K, Skogseid B. Plasma chromogranin A in patients with multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 1999 ; 84 (8) : 2712-7.
Guru SC, Goldsmith PK, Burns AL, Marx SJ, Spiegel AM, Collins FS, Chandrasekharappa SC. Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci USA. 1998 17 ; 95 (4) : 1630-4.
Guru SC, Crabtree Js, Brown KD, Dunn KJ, Manickam P, Prasad NB, Wangsa D, Burns AL, Spiegel AM, Marw SJ, Pavan Wj, Collins FS, Chandrasekharappa SC. Isolation, genomic organization, and expression analysis of Men 1, the murine homolog of the MEN1 gene. Mamm Genome. 1999 Jun ; 10 (6) : 592-6.
Hai N, Aoki N, Shimatsu A, Mori T, Kosugi S. Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1. Clin Endocrinol (Oxf). 2000 ; 52 (4) : 509-18.
Ikeo Y, Sakurai A, Hashizume K. Characterization of the MEN1 gene product, menin, by site- specific polyclonal antibodies. Jpn J Cancer Res. 1999 Oct ; 90 (10) : 1088-95.
Kaji H, Canaff L, Goltzman D, Hendy GN. Cell cycle regulation of menin expression. Cancer Res. 1999 Oct 15 ; 59 (20) : 5097-101.
Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. Proc Natl Acad Sci USA. 2001 Mar 27 ; 98 (7) : 3837-42.
Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT. Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. J Clin Endocrinol Metab. 2000 ; 85 (1) : 165-7.
Khodaei-O'Brien S, Zablewska B, Fromaget M, Bylund L, Weber G, Gaudray R Heterogeneity at the 5′-end of MEN1 transcripts. Biochem Biophys Res Commun. 2000 24 ; 276 (2) : 508-14.
Kovacs K, Scheithauer BW, Horvath E, Lloyd RV. The World Health Organization classification of adenohypophysial neoplasms. A proposed five-tier scheme. Cancer. 1996 ; 78 (3) : 502-10.
Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjold M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. (Nature. 1988 Mar 3 ; 332 (6159) : 85-7.
McCutcheon IE. Management of individual tumor syndromes : pituitary neoplasia. Endocrinol Metab Clin North Am 1994 ; 23 : 37-51.
Nord B, Platz A, Smoczynski K, Kytola S, Robertson G, Calender A, Murat A, Weintraub D, Burgess J, Edwards M, Skogseid B, Owen D, Lassam N, Hogg D, Larsson C, Teh BT. Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma. Int J Cancer. 2000 15 ; 87 (4) : 463-7.
O'BrienT, O'Riordan DS, Gharib H, Scheithauer BW, Ebersold MJ, van Heerden JA. Results of treatment of pituitary disease in multiple endocrine neoplasia, type I. (Neurosurgery. 1996 Aug ; 39 (2) : 273-8; discussion 278-9.
Pannett AA, Thakker RV. Multiple endocrine neoplasia type 1. Endocr Relat Cancer. 1999 ; 6 (4) : 449-73.
Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ, Verloes A, Meurisse M, Van Gaal L, Verellen C, Koulischer L, Beckers A. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. Hum Mutat. 1999 ; 13 (1) : 54-60.
Sahdev A, Jager R. Bilateral pituitary adenomas occurring with multiple endocrine neoplasia type one. AJNR Am J Neuroradiol. 2000 Jun-Jul ; 21 (6) : 1067-9.
Sato M, Miyauchi A, Namihira H, Bhuiyan MM, Imachi H, Murao K, Takahara J.A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma. Endocrine. 2000 ; 12 (3) : 223-6.
Scheithauer BW, Laws ER Kovacs K. Pituitary Adenomas of the Multiple Endocrine Neoplasia Type Syndrome. Seminars in Diagnostic Pathology 1987 ; 4 : 205-211.
Shepherd JJ. Latent familial multiple endocrine neoplasia in Tasmania. Med J Aust 1985 ; 142 : 395-97.
Shintani Y, Yoshimoto K, Horie H, Sano T, Kanesaki Y, Hosoi E, Yokogoshi Y, Bando H, Iwahana H, Kannuki S, et al. Two different pituitary adenomas in a patient with multiple endocrine neoplasia type 1 associated with growth hormone-releasing hormone-producing pancreatic tumor: clinical and genetic features. Endocr J. 1995 ; 42 (3) : 331-40.
Skogseid B, Larsson C, Lindgren PG, Kvanta PG, Rastad J, Theodorsson E, Wide L, Wilander E, Oberg K. Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 1992 Jul ; 75 (1) : 76-81.
Stock JL, Warth MR, Teh BT, Coderre JA, Overdorf JH, Baumann G, Hintz RL, Hartman ML, Seizinger BR, Larsson C, Aronin N. A kindred with a variant of multiple endocrine neoplasia type 1 demonstrating frequent expression of pituitary tumors but not linked to the multiple endocrine neoplasia type 1 locus at chromosome region 11q13. J Clin Endocrinol Metab. 1997 ; 82 (2) : 486-92.
Teh BT, McArdle J, Chan SP, Menon J, Hartley L, Pullan P, Ho J, Khir A, Wilkinson S, Larsson C, Cameron D, Shepherd J. Clinicopathologic studies of thymic carcinoids in multiple endocrine neoplasia type 1. Medicine (Baltimore). 1997 Jan ; 76 (1) : 21-9.
Teh BT, Esapa CT, Houlston R, Grandell U, Farnebo F, Nordenskjold M, Pearce CJ, Carmichael D, Larsson C, Harris PE. A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am J Hum Genet. 1998 ; 63 (5) : 1544-9.
Thakker RV, Ponder BA. Multiple endocrine neoplasia. Baillieres Clin Endocrinol Metab. 1988 Nov ; 2 (4) : 1031-67.
Valdes Socin H, Chanson P, Delemer B, Tabarin A, Rohmer V, Mockel J, Parotte MC, Betea D, Stevenaert A, Beckers A. Thyrotropin Producing Pituitary Adenomas : A large Belgo-French experience of 41 cases. 2001. Dans 5th European Congress of Endocrinology, P-575.
Verges B, Boureille F, Goudet P, et coll. Pituitary Disease in Multiple Endocrine Neoplasia Type 1. The France-Belgium MEN 1 multicenter study. Dans Proc of the 80th Annual Meeting of the Endocrine Soc. 1998 ; 468.
Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS, Weil R, Barlow C, Spiegel AM, Marx SJ, Zhuang Z. Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. Mod Pathol. 1999 ; 12 (9) : 919-24.
Wautot V, Khodaei S, Frappart L, Buisson N, Baro E, Lenoir GM, Calender A, Zhang CX, Weber G. Expression analysis of endogenous menin, the product of the multiple endocrine neoplasia type 1 gene, in cell lines and human tissues. Int J Cancer. 2000 15 ; 85 (6) : 877-81.
Weber HC, Venzon DJ, Lin JT, Fishbein VA, Orbuch M, Strader DB, Gibril F, Metz DC, Fraker DL, Norton JA, et al. Determinants of metastatic rate and survival in patients with Zollinger-Ellison syndrome : a prospective long-term study. Gastroenterology. 1995 ; 108 (6) : 1637-49.
Wilkinson S, Teh BT, Davey KR, McArdle JP, Young M, Shepherd JJ : Cause of death in multiple endocrine neoplasia type I. Arch Surg. 1993 Jun ; 128 (6) : 683-90.
Zollinger RM. The history of the Zollinger-Ellison syndrome. Ann Gastroenterol Hepatol (Paris). 1991 Oct ; 27 (5) : 223-6.