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Multiple endokrine Neoplasien Typ 1

Multiple endocrine neoplasia type I

Der Pathologe volume 31, pages 445–448 (2010)Cite this article

Zusammenfassung

Das Syndrom der multiplen endokrinen Neoplasien vom Typ 1 (MEN1) ist ein seltenes angeborenes Syndrom, das sich durch eine Reihe endokriner und nichtendokriner Tumoren und Läsionen manifestiert. Die genetische Grundlage sind spezifische Keimbahnmutationen des MEN1-Gens, eines Tumorsuppressorgens. Der Nachweis dieser Keimbahnmutationen erlaubt die frühe Identifikation von betroffenen (ggf. noch symptomfreien) Patienten. Durch den kombinierten Einsatz moderner genetischer und klinischer Diagnoseverfahren werden die MEN1-assoziierten Tumoren heute früher erkannt, wodurch sowohl die Krankheitsprognose als auch die Lebensqualität der betroffenen Patienten deutlich verbessert werden können. Dieser Übersichtsartikel fasst die für den Pathologen wichtigen Informationen zur Morphologie und Klinik der MEN1-assoziierten endokrinen und nichtendokrinen Tumoren und Läsionen zusammen.

Abstract

Multiple endocrine neoplasia type I (MEN1) is a rare hereditary cancer syndrome, which is manifestsed as a variety of endocrine and non-endocrine tumours and lesions caused by specific germline mutations of the MEN1 gene, a tumour suppressor gene. The detection of these germline mutations allows the early identification of affected, possibly still asymptomatic patients. The combined use of genetic and clinical tools for the diagnosis of MEN1-associated tumours substantially improves both the course of the disease and the quality of life of affected patients. This review summarizes the relevant morphological and clinical features of MEN1-associated endocrine and non-endocrine neoplasms and lesions.

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Literatur

  1. Agha A, Carpenter R, Bhattacharya S et al (2007) Parathyroid carcinoma in multiple endocrine neoplasia type 1 (MEN1) syndrome: two case reports of an unrecognised entity. J Endocrinol Invest 30:145–149

    CAS  PubMed  Google Scholar 

  2. Anlauf M, Perren A, Henopp T et al (2007) Allelic deletion of the MEN1 gene in duodenal gastrin and somatostatin cell neoplasms and their precursor lesions. Gut 56:637–644

    Article  CAS  PubMed  Google Scholar 

  3. Anlauf M, Perren A, Klöppel G (2007) Endocrine precursor lesions and microadenomas of the duodenum and pancreas with and without MEN1: criteria, molecular concepts and clinical significance. Pathobiology 74:279–284

    Article  PubMed  Google Scholar 

  4. Calender A, Morrison CD, Komminoth P et al (2004) Multiple endocrine neoplasia type 1. In: World Health Organization Classification of Tumours. Pathology & Genetics. Tumours of Endocrine Organs (2004) DeLellis RA, Lloyd RV, Heitz PU, Eng C (Hrsg) IARC Press, Lyon, S 218–227

  5. Falchetti A, Marini F, Luzi E et al (2009) Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet Med 11:825–635

    Article  CAS  PubMed  Google Scholar 

  6. Fendrich V, Langer P, Waldmann J et al (2007) Management of sporadic and multiple endocrine neoplasia type 1 gastrinomas. Br J Surg 94:1331–1341

    Article  CAS  PubMed  Google Scholar 

  7. Gagel RF, Marx SJ (2007) Multiple endocrine neoplasia. In: Larsen PR, Kronenberg H, Melmed S, Polonsky K (Hrsg) Williams textbook of endocrinology, 11. Aufl. WB Saunders, Orlando

  8. Gordon MV, Varma D, McLean CA et al (2007) Metastatic prolactinoma presenting as a cervical spinal cord tumour in multiple endocrine neoplasia type one (MEN-1). Clin Endocrinol (Oxf) 66:150 –152

    Google Scholar 

  9. Hoffmann KM, Furukawa M, Jensen RT (2005) Duodenal neuroendocrine tumors: classification, functional syndromes, diagnosis and medical treatment. Best Pract Res Clin Gastroenterol 19:675–697

    Article  CAS  PubMed  Google Scholar 

  10. Kato H, Uchimura I, Morohoshi M et al (1996) Multiple endocrine neoplasia type 1 associated with spinal ependymoma. Intern Med 35:285–289

    Article  CAS  PubMed  Google Scholar 

  11. Marx SJ, Agarwal SK, Kester MB et al (1999) Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Prog Horm 54:397–438

    CAS  Google Scholar 

  12. Thomas-Marques L, Murat A, Delemer B et al (2006) Prospective endoscopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. Am J Gastroenterol 101:266 –273

    Article  PubMed  Google Scholar 

  13. Triponez F, Dosseh D, Goudet P et al (2006) Epidemiology data on 108 MEN 1 patients from the GTE with isolated nonfunctioning tumors of the pancreas. Ann Surg 243:265–272

    Article  PubMed  Google Scholar 

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  1. Institut für Pathologie und Neuropathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Deutschland

    E. Koncz &  K.W. Schmid

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  1. E. Koncz
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  2. K.W. Schmid
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Correspondence to K.W. Schmid.

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Koncz, E., Schmid, K. Multiple endokrine Neoplasien Typ 1. Pathologe 31, 445–448 (2010). https://doi.org/10.1007/s00292-010-1356-4

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  • DOI: https://doi.org/10.1007/s00292-010-1356-4

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