Zusammenfassung
Das Kapitel behandelt die multiplen endokrinen Neoplasien Typ 1 und Typ 2 mit ihren Unterformen und gibt einen kurzen Überblick über weitere Syndrome mit endokrinen Neoplasien. Neben Ätiologie, Pathogenese und Genetik werden die typische Lokalisation sowie Morphologie der Befunde zusammen mit der klinischen Symptomatik, dem Verlauf und der Prognose beschrieben. In einem zweiten Teil werden die pluriglanduläre endokrine Insuffizienz und deren zwei typische Unterformen abgehandelt.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Literatur
Albores-Saavedra JA, Krueger JE (2001) C-cell hyperplasia and medullary thyroid microcarcinoma. Endocr Pathol 12:365–377
Anlauf M, Enosawa T, Henopp T, Schmitt A, Gimm O, Brauckhoff M, Dralle H, Musil A, Hauptmann S, Perren A, Klöppel G (2008) Primary lymph node gastrinoma or occult duodenal microgastrinoma with lymph node metastases in a MEN1 patient: the need for a systematic search for the primary tumor. Am J Surg Pathol 32:1101–1105
Anlauf M, Garbrecht N, Henopp T, Schmitt A, Schlenger R, Raffel A, Krausch M, Gimm O, Eisenberger CF, Knoefel WT, Dralle H, Komminoth P, Heitz PU, Perren A, Kloppel G (2006) Sporadic versus hereditary gastrinomas of the duodenum and pancreas: distinct clinico-pathological and epidemiological features. World J Gastroenterol 12:5440–5446
Anlauf M, Perren A, Henopp T, Rudolf T, Garbrecht N, Schmitt A, Raffel A, Gimm O, Weihe E, Knoefel WT, Dralle H, Heitz PU, Komminoth P, Kloppel G (2007) Allelic deletion of the MEN1 gene in duodenal gastrin and somatostatin cell neoplasms and their precursor lesions. Gut 56:637–644
Baisch JM, Weeks T, Giles R, Hoover M, Stastny P, Capra JD (1990) Analysis of HLA-DQ genotypes and susceptibility in insulin-dependent diabetes mellitus. N Engl J Med 322:1836–1841
Belar O, De La Hoz C, Perez-Nanclares G, Castano L, Gaztambide S (2011) Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. Clin Endocrinol (Oxf) 76:719–724
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr., Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671
Cadiot G, Laurent PP, Thuille B, Lehy T, Mignon M, Olschwang S (1993) Is the multiple endocrine neoplasia type 1 gene a suppressor for fundic argyrophil tumors in the Zollinger-Ellison syndrome? Gastroenterology 105:579–582
Calender A, Morrison C, Komminoth P, Scoazec J, Sweet K, Eng C (2004) Inherited tumor syndromes. In: DeLellis R, Heitz P, Lloyd R, Eng C (Hrsg) WHO classification of tumours. Pathology and genetics of tumours of endocrine organs. IARC Press, Lyon, S 209–261
Carpenter CC, Solomon N, Silverberg SG, Bledsoe T, Northcutt RC, Klinenberg JR, Bennett IL Jr., Harvey AM (1964) Schmidt’s syndrome (thyroid and adrenal insufficiency). a review of the literature and a report of fifteen new cases including ten instances of coexistent diabetes mellitus. Medicine (Baltimore) 43:153–180
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi S, 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 (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276:404–406
Clerici T, Schmid C, Komminoth P, Lange J, Spinas GA, Brändle M (2001) 10 Swiss kindreds with multiple endocrine neoplasia type 1: Assessment of screening methods. Swiss Med Wkly 131:381–386
DeLellis RA (1995) Multiple endocrine neoplasia syndromes revisited. Clinical, morphologic and molecular features. Lab Invest 72:494–505
Cooper DS, Doherty GM, Haugen BR, Kloos RT, Lee SL, Mandel SJ, Mazzaferri EL, McIver B, Pacini F, Schlumberger M, Sherman SI, Steward DL, Tuttle RM (2009) Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid 19:1167–1214
Donow C, Pipeleers-Marichal M, Schroder S, Stamm B, Heitz PU, Kloppel G (1991) Surgical pathology of gastrinoma. Site, size, multicentricity, association with multiple endocrine neoplasia type 1, and malignancy. Cancer 68:1329–1334
Heitz PU, Steiner H (1981) Pluriglanduläre endokrine Regulationsstörungen. In: Doerr W, Seifert G, Uehlinger E (Hrsg) Pathologie der endokrinen Organe. Springer, Berlin, S 1137–1203
Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Höppener JWM, Ploos van Amstel HK, Romeo G, Lips CJM, Buys CHCM (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375–376
Kato H, Uchimura I, Morohoshi M, Fujisawa K, Kobayashi Y, Numano F, Goseki N, Endo M, Tamura A, Nagashima C (1996) Multiple endocrine neoplasia type 1 associated with spinal ependymoma. Intern Med 35:285–289
Klöppel G, Höfler H, Heitz PU (1993) Pancreatic endocrine tumours in man. In: Polak JM (Hrsg) Diagnostic histopathology of neuroendocrine tumours. Churchill Livingstone, Edinburgh, S 91–121
Klöppel G, Willemer S, Stamm B, Häcki WH, Heitz PU (1986) Pancreatic lesions and hormonal profile of pancreatic tumors in multiple endocrine neoplasia type I. An immunocytochemical study of nine patients. Cancer 57:1824–1832
Koch CA, Mauro D, Walther MM, Linehan WM, Vortmeyer AO, Jaffe R, Pacak K, Chrousos GP, Zhuang Z, Lubensky IA (2002) Pheochromocytoma in von hippel-lindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol 13:17–27
Komminoth P (1997) Multiple endokrine Neoplasie Typ 1 und 2. Diagnostische Leitlinien und molekulare Pathologie 1997. Pathologe 18:286–300
Komminoth P (1997) The RET proto-oncogene in medullary and papillary thyroid carcinoma. Molecular features, pathophysiology and clinical implications. Virchows Arch 431:1–9
Komminoth P (1999) Multiple endocrine neoplasia type 1, sporadic neuroendocrine tumors and MENIN. Diagn Mol Pathol 8:107–112
Komminoth P (2000) A 5178G->A splice donor site mutation in intron 4 of the MEN1 gene causing multiple endocrine neoplasia type 1. Int J Cancer 87:306–307
Komminoth P, De Krjiger R, Tischler A (2002) Paraganglia and the adrenal medulla. In: LiVolsi V, Asa S (Hrsg) Endocrine Pathology. Churchill Livingstone, New York, S 149–169
Komminoth P, Heitz PU, Klöppel G (1998) Pathology of MEN-1: Morphology, clinicopathologic correlations and tumor development. Int J Med 243:455–464
Komminoth P, Heitz PU, Klöppel G (2000) Multiple endocrine disorders. In: Stefaneanu LS, Sasano HS, Kovacs K (Hrsg) Molecular and cellular endocrine pathology. Arnold, London, S 375–400
Komminoth P, Kunz EK, Matias-Guiu X, Hiort O, Christiansen G, Colomer A, Roth J, Heitz PU (1995) Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 76:479–489
Komminoth P, Muletta-Feurer S, Soltermann A, Gemsenjäger E, Bürgi H, Staub JJ, Schönle E, Fried M, Vetter W, Spinas GA, Heitz PU (1996) Detection of RET-proto-oncogene mutations in the diagnosis of type 2 endocrine neoplasia (MEN 2). Schweiz Med Wochenschr 126:1329–1338
Koncz E, Schmid KW (2010) Multiple endocrine neoplasia type I. Pathologe 31:445–448
Kumar PG, Laloraya M, She JX (2002) Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 31:321–338
Lee M, Pellegata NS (2013) Multiple endocrine neoplasia syndromes associated with mutation of p27. J Endocrinol Invest 36:781–787
Lee M, Pellegata NS (2013) Multiple endocrine neoplasia type 4. Front Horm Res 41:63–78
Molatore S, Pellegata NS (2010) The MENX syndrome and p27: relationships with multiple endocrine neoplasia. Prog Brain Res 182:295–320
Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BAJ (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458–460
Neufeld M, Maclaren NK, Blizzard RM (1981) Two types of autoimmune Addison’s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore) 60:355–362
Padberg B, Schröder S, Capella C, Frilling A, Klöppel G, Heitz PU (1995) Multiple endocrine neoplasia type 1 (MEN 1) revisited. Virchows Arch 426:541–548
Perren A, Anlauf M, Henopp T, Rudolph T, Schmitt A, Raffel A, Gimm O, Weihe E, Knoefel WT, Dralle H, Heitz PU, Komminoth P, Kloppel G (2007) Multiple endocrine neoplasia type 1 (MEN1): loss of one MEN1 allele in tumors and monohormonal endocrine cell clusters but not in islet hyperplasia of the pancreas. J Clin Endocrinol Metab 92:1118–1128
Peterson P, Pitkanen J, Sillanpaa N, Krohn K (2004) Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity. Clin Exp Immunol 135:348–357
Pipeleers MM, Somers G, Willems G, Foulis A, Imrie C, Bishop AE, Polak JM, Hacki WH, Stamm B, Heitz PU et al (1990) Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger-Ellison syndrome [see comments]. N Engl J Med 322:723–727
Santamaria P, Barbosa JJ, Lindstrom AL, Lemke TA, Goetz FC, Rich SS (1994) HLA-DQB1-associated susceptibility that distinguishes Hashimoto’s thyroiditis from Graves’ disease in type I diabetic patients. J Clin Endocrinol Metab 78:878–883
Sheu SY, Schmid KW (2010) Multiple endocrine Neoplasien Typ 2. Pathologe 31:449–454. Erratum in: Pathologe (2011) 32:82
Scheithauer BW, Laws EJ, Kovacs K, Horvath E, Randall RV, Carney JA (1987) Pituitary adenomas of the multiple endocrine neoplasia type I syndrome. Semin Diagn Pathol 4:205–211
Schröder S, Padberg BC (1991) Pathologie der multiplen endokrinen Neoplasien 2A und 2B – eine aktuelle Bestandsaufnahme. Pathologe 12:131–137
Solcia E, Capella C, Fiocca R, Rindi G, Rosai J (1990) Gastric argyrophil carcinoidosis in patients with Zollinger-Ellison syndrome due to type 1 multiple endocrine neoplasia. Am J Surg Pathol 14:503–513
Stolte M, Rüschoff J, Klöppel G (2013) Pathologie. Verdauungstrakt und Peritoneum. Springer, Berlin
Szinnai G, Meier C, Komminoth P, Zumsteg UW (2003) Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis. Pediatrics 111:E132–139
Tait KF, Gough SC (2003) The genetics of autoimmune endocrine disease. Clin Endocrinol (Oxf) 59:1–11
Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, Edwards CR, Heath DA, Jackson CE, Jansen S, Lips K, Monson JP, Ohalloran D, Sampson J, Shalet SM, Wheeler MH, Zink A, Thakker RV (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Qjm Mon J Assoc Physician 89:653–669
Wohllk N, Schweizer H, Erlic Z, Schmid KW, Walz MK, Raue F, Neumann HP (2010) Multiple endocrine neoplasia type 2. Best Pract Res Clin Endocrinol Metab 24:371–387
Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP (2002) The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components. J Mol Med 80:201–211
Welander J, Soderkvist P, Gimm O (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18:R253–276
Wolfe H, Melvin K, Cervi-Skinner S, Al Saadi A, Juliar J, Jackson C, Tashjian A (1973) C-cell hyperplasia preceding medullary thyroid carcinoma. N Engl J Med 289:437–441
Yang YJ, Song TY, Park J, Lee J, Lim J, Jang H, Kim YN, Yang JH, Song Y, Choi A, Lee HY, Jo CH, Han JW, Kim ST, Youn HD, Cho EJ (2013) Menin mediates epigenetic regulation via histone H3 lysine 9 methylation. Cell Death Dis 4:e583
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Komminoth, P., Heitz, P.U., Klöppel, G. (2016). Pluriglanduläre endokrine Regulationsstörungen. In: Amann, K., Kain, R., Klöppel, G. (eds) Pathologie. Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04566-0_25
Download citation
DOI: https://doi.org/10.1007/978-3-642-04566-0_25
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-04565-3
Online ISBN: 978-3-642-04566-0
eBook Packages: Medicine (German Language)