multiple endocrine neoplasia

Summary

Summary: A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.

Top Publications

  1. Froeling V, Elgeti F, Maurer M, Scheurig Muenkler C, Beck A, Kroencke T, et al. Impact of Ga-68 DOTATOC PET/CT on the diagnosis and treatment of patients with multiple endocrine neoplasia. Ann Nucl Med. 2012;26:738-43 pubmed publisher
    To evaluate the impact of Ga-68 DOTATOC PET/CT on diagnosis and therapeutic management of patients with multiple endocrine neoplasia (MEN).
  2. Stratakis C, Carney J, Lin J, Papanicolaou D, Karl M, Kastner D, et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. 1996;97:699-705 pubmed
    ..This region has exhibited cytogenetic aberrations in atrial myxomas associated with the complex, and has been characterized by microsatellite instability in human neoplasias...
  3. Scarsbrook A, Thakker R, Wass J, Gleeson F, Phillips R. Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach. Radiographics. 2006;26:433-51 pubmed
    b>Multiple endocrine neoplasia (MEN) is characterized by the occurrence of two or more tumors that may be associated with hyperfunction and malignancy. MEN is caused by genetic defects, and two major types, MEN 1 and MEN 2, are recognized...
  4. Toledo R, Sekiya T, Longuini V, Coutinho F, Lourenço D, Toledo S. Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil. Clinics (Sao Paulo). 2012;67 Suppl 1:3-6 pubmed
  5. Mulligan L, Kwok J, Healey C, Elsdon M, Eng C, Gardner E, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993;363:458-60 pubmed
    b>Multiple endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized by medullary thyroid carcinoma (MTC) and phaeochromocytoma...
  6. Frank Raue K, Hoppner W, Frilling A, Kotzerke J, Dralle H, Haase R, et al. Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. J Clin Endocrinol Metab. 1996;81:1780-3 pubmed
  7. Machens A, Brauckhoff M, Holzhausen H, Thanh P, Lehnert H, Dralle H. Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 2005;90:3999-4003 pubmed
    Recent data suggest a codon-specific, age-related development of multiple endocrine neoplasia type 2.
  8. Malone J, Srivastava A, Khardori R. Hyperparathyroidism and multiple endocrine neoplasia. Otolaryngol Clin North Am. 2004;37:715-36, viii pubmed
    b>Multiple endocrine neoplasia (MEN) syndromes comprise the group of heritable endocrinopathies, MEN 1, MEN 2A, and MEN 2B...
  9. Callender G, Rich T, Perrier N. Multiple endocrine neoplasia syndromes. Surg Clin North Am. 2008;88:863-95, viii pubmed publisher
    The multiple endocrine neoplasia (MEN) syndromes are rare autosomal-dominant conditions that predispose affected individuals to benign and malignant tumors of the pituitary, thyroid, parathyroids, adrenals, endocrine pancreas, paraganglia,..

More Information

Publications62

  1. Gkaliagkousi E, Erlic Z, Petidis K, Semertzidis P, Doumas M, Zamboulis C, et al. Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A. Eur J Clin Invest. 2009;39:828-32 pubmed publisher
  2. Lips C, Hoppener J, Van Nesselrooij B, Van der Luijt R. Counselling in multiple endocrine neoplasia syndromes: from individual experience to general guidelines. J Intern Med. 2005;257:69-77 pubmed
    ..closely related family members has to take a central place in management of hereditary diseases, like multiple endocrine neoplasia (MEN) syndromes including von Hippel-Lindau (VHL) disease...
  3. Frilling A, Weber F, Tecklenborg C, Broelsch C. Prophylactic thyroidectomy in multiple endocrine neoplasia: the impact of molecular mechanisms of RET proto-oncogene. Langenbecks Arch Surg. 2003;388:17-26 pubmed
    b>Multiple endocrine neoplasia (MEN) type 2, a cancer syndrome inherited in the dominant fashion, is defined by the occurrence of medullary thyroid carcinoma (MTC), either as a singular lesion (familial medullary thyroid carcinoma, FMTC) or ..
  4. Conte Devolx B, Niccoli P. [Clinical characteristics of multiple endocrine neoplasia]. Bull Acad Natl Med. 2010;194:69-78; discussion 78-9 pubmed
    b>Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are autosomal dominant inherited multiglandular diseases with familial and individual age-related penetrance and variable expression...
  5. Westerdahl J, Bergenfelz A. Parathyroid surgical failures with sufficient decline of intraoperative parathyroid hormone levels: unobserved multiple endocrine neoplasia as an explanation. Arch Surg. 2006;141:589-94 pubmed
    ..A sufficient decline in levels of parathyroid hormone measured intraoperatively (ioPTH) precludes early and late surgical failures...
  6. Molatore S, Pellegata N. The MENX syndrome and p27: relationships with multiple endocrine neoplasia. Prog Brain Res. 2010;182:295-320 pubmed publisher
    ..the etiopathogenesis of hereditary endocrine tumors has emerged from studies conducted on MENX, a rat multiple endocrine neoplasia (MEN) syndrome...
  7. Abu Amero K, Alzahrani A, Zou M, Shi Y. Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome. Oncogene. 2006;25:677-84 pubmed
    ..parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2/familial medullary thyroid carcinoma (FMTC) syndromes...
  8. Toledo S, Lourenço D, Santos M, Tavares M, Toledo R, Correia Deur J. Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. Clinics (Sao Paulo). 2009;64:699-706 pubmed publisher
    ..In multiple endocrine neoplasia type 2 (MEN2), RET mutation analysis is the gold-standard for the recommendation of total preventive ..
  9. Stratakis C, Kirschner L, Carney J. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86:4041-6 pubmed
    ..an autosomal dominant trait and may simultaneously involve multiple endocrine glands, as in the classic multiple endocrine neoplasia syndromes 1 and 2...
  10. Marinoni I, Pellegata N. p27kip1: a new multiple endocrine neoplasia gene?. Neuroendocrinology. 2011;93:19-28 pubmed publisher
    ..Here, we review the clinical and molecular characteristics of the MEN4 syndrome and summarize the main functions of p27 to better comprehend how their alteration can predispose to neuroendocrine tumors...
  11. Fritz A, Walch A, Piotrowska K, Rosemann M, Schäffer E, Weber K, et al. Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. Cancer Res. 2002;62:3048-51 pubmed
    ..Although the spectrum of affected tissues is reminiscent of human forms of multiple endocrine neoplasia (MEN), no germ-line mutations were detected in the Ret or Menin genes that are responsible for the ..
  12. Occhi G, Trivellin G, Ceccato F, De Lazzari P, Giorgi G, Demattè S, et al. Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia. Eur J Endocrinol. 2010;163:369-76 pubmed publisher
    ..associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4)...
  13. Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio M, degli Uberti E, et al. A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. Hum Mutat. 2010;31:E1825-35 pubmed publisher
    b>Multiple endocrine neoplasia (MEN) syndromes are characterized by tumors involving two or more endocrine glands. Two MEN syndromes have long been known: MEN1 and MEN2,caused by germline mutations in MEN1 or RET, respectively...
  14. Falchetti A, Marini F, Luzi E, Tonelli F, Brandi M, Brandt M. Multiple endocrine neoplasms. Best Pract Res Clin Rheumatol. 2008;22:149-63 pubmed publisher
    b>Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are rare autosomal-dominant disorders characterized by primary tumours in at least two different endocrine tissues...
  15. Marx S, Stratakis C. Multiple endocrine neoplasia--introduction. J Intern Med. 2005;257:2-5 pubmed
    Each multiple endocrine neoplasia (MEN) syndrome expresses striking features of hormone oversecretion from its own characteristic group of tissues...
  16. Wohllk N, Becker P, Veliz J, Pineda G. [Multiple endocrine neoplasia: a clinical model for applying molecular genetic techniques]. Rev Med Chil. 2000;128:791-800 pubmed
    ..Some cases of sporadic MTC are actually MEN 2A or Familial MTC after c-Ret testing is done, therefore routine application of this test is recommended in all cases of apparent sporadic MTC...
  17. Zhou G, Wei Y, Chen X, Jiang X, Li X, Ning G, et al. Diagnosis and surgical treatment of multiple endocrine neoplasia. Chin Med J (Engl). 2009;122:1495-500 pubmed
    b>Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN.
  18. Molatore S, Liyanarachchi S, Irmler M, Perren A, Mannelli M, Ercolino T, et al. Pheochromocytoma in rats with multiple endocrine neoplasia (MENX) shares gene expression patterns with human pheochromocytoma. Proc Natl Acad Sci U S A. 2010;107:18493-8 pubmed publisher
    ..These studies reveal clues to the molecular pathways involved in rat and human pheochromocytoma and identify previously unexplored biomarkers for clinical use...
  19. Lakhani V, You Y, Wells S. The multiple endocrine neoplasia syndromes. Annu Rev Med. 2007;58:253-65 pubmed
    b>Multiple endocrine neoplasia (MEN) type 1 and type 2 exhibit an autosomal dominant pattern of inheritance. In the past two decades the germline mutations that cause these inherited syndromes have been identified...
  20. Pellegata N. MENX and MEN4. Clinics (Sao Paulo). 2012;67 Suppl 1:13-8 pubmed
    ..Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations...
  21. Carlson K, Dou S, Chi D, Scavarda N, Toshima K, Jackson C, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci U S A. 1994;91:1579-83 pubmed
    b>Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic ..
  22. Hofstra R, Landsvater R, Ceccherini I, Stulp R, Stelwagen T, Luo Y, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 1994;367:375-6 pubmed
    b>Multiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly inherited cancer syndromes. MEN 2A patients develop medullary thyroid carcinoma (MTC) and phaeochromocytoma...
  23. Eng C, Smith D, Mulligan L, Nagai M, Healey C, Ponder M, et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet. 1994;3:237-41 pubmed
    The susceptibility loci for the three multiple endocrine neoplasia (MEN) type 2 syndromes have been mapped to the region of chromosome 10q11.2 containing the RET proto-oncogene, which codes for a receptor tyrosine kinase...
  24. Carney J. Familial multiple endocrine neoplasia syndromes: components, classification, and nomenclature. J Intern Med. 1998;243:425-32 pubmed
    There are three generally accepted multiple endocrine neoplasia (MEN) syndromes: MEN-1, MEN-2A, and MEN-2B...
  25. Carney J. Familial multiple endocrine neoplasia: the first 100 years. Am J Surg Pathol. 2005;29:254-74 pubmed
    ..In 1968, Steiner et al introduced the term "multiple endocrine neoplasia" (MEN) to describe disorders featuring combinations of endocrine tumors; they designated the ..
  26. Molatore S, Kiermaier E, Jung C, Lee M, Pulz E, Hofler H, et al. Characterization of a naturally-occurring p27 mutation predisposing to multiple endocrine tumors. Mol Cancer. 2010;9:116 pubmed publisher
    ..The finding that a spontaneous germline frameshift mutation in Cdkn1b (encoding p27) causes the MENX multiple endocrine neoplasia syndrome in the rat provided the first evidence that Cdkn1b is a tumor susceptibility gene for ..
  27. Wu C, Huang C, Tsai S, Chiang H, Lui W, P eng F. Parathyroid carcinoma in a patient with non-secretory pituitary tumor: a variant of multiple endocrine neoplasia type-I?. Eur J Surg Oncol. 1992;18:517-20 pubmed
    ..a case of pituitary adenoma in association with parathyroid carcinoma as an unusual combination of multiple endocrine neoplasia (MEN)...
  28. Pellegata N, Quintanilla Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006;103:15558-63 pubmed
    MENX is a recessive multiple endocrine neoplasia-like syndrome in the rat. The tumor spectrum in MENX overlaps those of human multiple endocrine neoplasia (MEN) types 1 and 2...
  29. Yoshimoto K, Iizuka M, Iwahana H, Yamasaki R, Saito H, Saito S, et al. Loss of the same alleles of HRAS1 and D11S151 in two independent pancreatic cancers from a patient with multiple endocrine neoplasia type 1. Cancer Res. 1989;49:2716-21 pubmed
    The DNAs from two independent pancreatic cancers (tumors 1 and 2) in a patient with multiple endocrine neoplasia type 1 were analyzed. No amplification or gross rearrangement of 19 protooncogenes was observed...
  30. Giraud S, Zhang C, Serova Sinilnikova O, Wautot V, Salandre J, Buisson N, et al. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Am J Hum Genet. 1998;63:455-67 pubmed
    b>Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues...
  31. Listernick R. A 13-year-old girl with a history of weight loss and fatigue. Pediatr Ann. 2007;36:451-3, 457-8 pubmed
  32. Manchester C. Multiple endocrine neoplasia: the enigma of MEN. AACN Adv Crit Care. 2013;24:304-13 pubmed publisher
    b>Multiple endocrine neoplasia (MEN) is an array of tumors found in various endocrine glands throughout the human body. A wide spectrum of clinical manifestations accompanies this syndrome...
  33. Lee M, Pellegata N. Multiple endocrine neoplasia syndromes associated with mutation of p27. J Endocrinol Invest. 2013;36:781-7 pubmed publisher
    ..Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how it is affected by MENX- or MEN4-associated mutations. ..
  34. Eng C, Hampel H, de la Chapelle A. Genetic testing for cancer predisposition. Annu Rev Med. 2001;52:371-400 pubmed
    ..b>Multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and familial adenomatous polyposis are examples of syndromes for ..
  35. Clauser E. [Genetics in endocrinology]. Ann Endocrinol (Paris). 2003;64:361 pubmed
  36. Lytras A, Tolis G. Reproductive disturbances in multiple neuroendocrine tumor syndromes. Endocr Relat Cancer. 2009;16:1125-38 pubmed publisher
  37. Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, et al. Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res. 2008;14:388-95 pubmed publisher
    ..Although a few families map to chromosome 2, it is possible that current sequencing techniques do not detect larger gene changes in PRKAR1A -- mutation-negative individuals with Carney complex...
  38. Cignarelli M, Picca G, Campo M, Margaglione M, Marino A, Logoluso F, et al. A six month mitotane course induced sustained correction of hypercortisolism in a young woman with PPNAD and Carney complex. J Endocrinol Invest. 2005;28:54-60 pubmed
    ..2 microg/ml). Our report demonstrates that low dose MT treatment may be a safe and effective modality for a sustained correction of hypercortisolism by PPNAD in subjects with CNC waiting for surgery...
  39. Griffin K, Kirschner L, Matyakhina L, Stergiopoulos S, Robinson White A, Weinberg F, et al. A mouse model for Carney complex. Endocr Res. 2004;30:903-11 pubmed
    ..This mouse provides a useful tool for the investigation of cAMP, RIalpha, and PKA functions and confirms Prkar1a's critical role in tumorigenesis in endocrine and other tissues...
  40. Mizuki K, Okabe T, Yanase T. [Hyperparathyroidism--jaw tumor syndrome]. Nihon Rinsho. 2006;Suppl 2:23-6 pubmed
  41. McDonald H, Smailus D, Jenkins H, Adams K, Simpson N, Goodfellow P. Identification and characterization of a gene at D10S94 in the MEN2A region. Genomics. 1992;13:344-8 pubmed
    We have identified a candidate for the gene responsible for multiple endocrine neoplasia type 2A (MEN 2A) at D10S94 in proximal 10q11.2...
  42. Arai H, Nakao K. [Pheochromocytoma]. Nihon Rinsho. 2006;Suppl 1:724-9 pubmed
  43. Piccillo G, Musco A, Manfrini S, Mondati E, Guastella T. Two clinical cases of insulinoma misdiagnosed as psychiatric conditions. Acta Biomed. 2005;76:118-22 pubmed
    ..Once the surgical therapy was carried out, our subjects recovered totally and ended the psycho-drugs...
  44. De Cock H, MacLachlan N. Simultaneous occurrence of multiple neoplasms and hyperplasias in the adrenal and thyroid gland of the horse resembling multiple endocrine neoplasia syndrome: case report and retrospective identification of additional cases. Vet Pathol. 1999;36:633-6 pubmed
    ..b>Multiple endocrine neoplasia (MEN) in humans is a genetically determined syndrome characterized by the appearance of benign or ..
  45. Lo Monte A, Palumbo V, Damiano G, Maione C, Florena A, Gioviale M, et al. Double endocrine neoplasia in a renal transplant recipient: case report and review of the literature. Transplant Proc. 2011;43:1201-5 pubmed publisher
    ..Herein we have described a rare case of synchronous double malignancy of endocrine organs (thyroid-adrenal) in a young woman who underwent renal transplantation...
  46. Sisson J, Giordano T, Avram A. Three endocrine neoplasms: an unusual combination of pheochromocytoma, pituitary adenoma, and papillary thyroid carcinoma. Thyroid. 2012;22:430-6 pubmed publisher
    ..A genetic mutation was hypothesized. Possible previously described genetic mutations were explored...
  47. Walz M. [Adrenalectomy for preservation of adrenocortical function. Indication and results]. Chirurg. 2009;80:99-104 pubmed publisher
    ..Studies demonstrate results identical to those of total adrenalectomy. All other adrenal tumors are exceptional indications for partial adrenalectomy...
  48. Fraker D, Norton J. Controversies in surgical therapy for APUDomas. Semin Surg Oncol. 1993;9:437-42 pubmed
    ..abstract truncated at 250 words)..
  49. Pellegata N. MENX. Ann Endocrinol (Paris). 2012;73:65-70 pubmed publisher
    ..Finally, I present examples of how this animal model might be exploited as a translational platform for preclinical studies of pituitary adenomas...
  50. Bilimoria M. Prophylactic surgery in hereditary cancer syndromes: an ounce of prevention may be the only cure. J Surg Oncol. 2002;79:131-3 pubmed
  51. Kebebew E. Parathyroid carcinoma. Curr Treat Options Oncol. 2001;2:347-54 pubmed
    ..However, they do not treat the tumor and are rarely effective in the long term...
  52. Dumortier J, Lombard Bohas C, Hervieu V, Poncet G, Lapalus M, Valette P, et al. Unusual cystic presentation of an endocrine carcinoma of the jejunum. Dig Liver Dis. 2004;36:553-6 pubmed
    ..No adjuvant treatment was attempted. This observation underlines the difficult diagnostic problems raised by the cystic presentation of digestive endocrine tumours...
  53. Musholt T. [Diagnosis of and surgical therapy for pheochromocytoma and paraganglioma]. Zentralbl Chir. 2010;135:226-32 pubmed publisher
    ..Even for advanced malignant tumours, surgical debulking may be reasonable to improve the patient's quality of life and prognosis...