Skip to main content
SpringerLink
Log in

Hereditäre neuroendokrine Tumoren im Kindesalter

Childhood hereditary neuro-endocrine tumors

  • Mitteilungen der APED
  • Published:
Journal für Klinische Endokrinologie und Stoffwechsel Aims and scope

Zusammenfassung

Neuroendokrine Tumoren im Kindesalter sind in der Regel mit genetisch bedingten Tumorprädispositionssyndromen assoziiert. Daher wird eine prädiktive genetische Diagnostik empfohlen. Obwohl das Spektrum für Tumore bei multiplen endokrinen Neoplasien Typ 1 und 2 (MEN1, MEN2), von-Hippel-Lindau(vHL)-Syndrom und Phäochromozytom/Paragangliom charakteristisch ist, gibt es einige Überschneidungen. Die Screening-Programme werden in Übereinstimmung mit den Richtlinien der internationalen Fachgesellschaften empfohlen. Obwohl sie für den Patienten belastend sind, kann eine präsymptomatische Tumordiagnostik die Prognose verbessern. Die Behandlung der Patienten erfolgt in einem multidisziplinären Behandlungskonzept.

Abstract

Childhood neuroendocrine tumors in childhood are usually associated with genetic tumor predisposition syndromes. Therefore, predictive genetic diagnostics are recommended. Although the spectrum is characteristic of tumors in multiple neuroendocrine neoplasia type 1 and 2 (MEN1, MEN2), von-Hippel-Landau-syndrome, and pheochromocytoma/paraganglioma, there is some overlap. screening programs are recommended in accordance with international professional societies guidelines. Although burdensome to the patient, presymptomatic tumor diagnostics may improve prognosis. Patients are managed in a multidisciplinary treatment concept.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1
Abb. 2

Literatur

  1. Lemmens I et al (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet 6(7):1177–1183

    Article  CAS  PubMed  Google Scholar 

  2. Chandrasekharappa SC et al (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276(5311):404–407

    Article  CAS  PubMed  Google Scholar 

  3. Brandi ML et al (2021) Multiple endocrine neoplasia type 1: latest insights. Endocr Rev 42(2):133–170

    Article  PubMed  Google Scholar 

  4. Marini F et al (2017) Management impact: effects on quality of life and prognosis in MEN1. Endocr Relat Cancer 24(10):T227–t242

    Article  CAS  PubMed  Google Scholar 

  5. van Leeuwaarde RS et al (2018) High fear of disease occurrence is associated with low quality of life in patients with multiple endocrine neoplasia type 1: results from the Dutch MEN1 study group. J Clin Endocrinol Metab 103(6):2354–2361

    Article  PubMed  Google Scholar 

  6. Huang J et al (2012) The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. Nature 482(7386):542–546

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  7. Crabtree JS et al (2001) A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A 98(3):1118–1123

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  8. Goudet P et al (2002) Multiple endocrine neoplasia type I or Werner syndrome. What is important to know about surgery of a rate disease. Ann Chir 127(8):591–599

    Article  CAS  PubMed  Google Scholar 

  9. Qiu W et al (2016) Utility of chromogranin A, pancreatic polypeptide, glucagon and gastrin in the diagnosis and follow-up of pancreatic neuroendocrine tumours in multiple endocrine neoplasia type 1 patients. Clin Endocrinol (oxf) 85(3):400–407

    Article  CAS  PubMed  Google Scholar 

  10. Goudet P et al (2015) MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d’étude des Tumeurs Endocrines. J Clin Endocrinol Metab 100(4):1568–1577

    Article  CAS  PubMed  Google Scholar 

  11. Partelli S et al (2017) Systematic review of active surveillance versus surgical management of asymptomatic small non-functioning pancreatic neuroendocrine neoplasms. Br J Surg 104(1):34–41

    Article  CAS  PubMed  Google Scholar 

  12. D’souza SL, Elmunzer BJ, Scheiman JM (2014) Long-term follow-up of asymptomatic pancreatic neuroendocrine tumors in multiple endocrine neoplasia type I syndrome. J Clin Gastroenterol 48(5):458–461

    Article  Google Scholar 

  13. Krampitz GW, Norton JA (2014) RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Cancer 120(13):1920–1931

    Article  CAS  PubMed  Google Scholar 

  14. Nölting S et al (2022) Personalized management of pheochromocytoma and paraganglioma. Endocr Rev 43(2):199–239

    Article  PubMed  Google Scholar 

  15. Wells SA Jr. et al (2013) Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab 98(8):3149–3164

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  16. Wells SA Jr. et al (2015) Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid 25(6):567–610

    Article  PubMed Central  PubMed  Google Scholar 

  17. Pappa T (2015) The role of genetic screening in medullary thyroid cancer: a clinician’s view on the recent ATA guidelines. Expert Rev Endocrinol Metab 10(4):345–347

    Article  CAS  PubMed  Google Scholar 

  18. Nielsen SM et al (2016) Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome. J Clin Oncol 34(18):2172–2181

    Article  CAS  PubMed  Google Scholar 

  19. Rednam SP et al (2017) Von Hippel-Lindau and hereditary Pheochromocytoma/Paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res 23(12):e68–e75

    Article  CAS  PubMed  Google Scholar 

  20. Launbjerg K et al (2017) von Hippel-Lindau development in children and adolescents. Am J Med Genet A 173(9):2381–2394

    Article  PubMed  Google Scholar 

  21. Lammens CR et al (2011) Compliance with periodic surveillance for Von-Hippel-Lindau disease. Genet Med 13(6):519–527

    Article  PubMed  Google Scholar 

  22. Favier J et al (2005) Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res 63(4):171–179

    CAS  PubMed  Google Scholar 

  23. Muth A et al (2019) Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma. J Intern Med 285(2):187–204

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department für Kinder- und Jugendheilkunde, Pädiatrie 1, Medizinische Universität Innsbruck, Innsbruck, Österreich

    Elisabeth Steichen-Gersdorf

Authors
  1. Elisabeth Steichen-Gersdorf
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Elisabeth Steichen-Gersdorf.

Ethics declarations

Interessenkonflikt

E. Steichen-Gersdorf gibt an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von der Autorin keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

Additional information

Hinweis des Verlags

Der Verlag bleibt in Hinblick auf geografische Zuordnungen und Gebietsbezeichnungen in veröffentlichten Karten und Institutsadressen neutral.

figure qr

QR-Code scannen & Beitrag online lesen

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Steichen-Gersdorf, E. Hereditäre neuroendokrine Tumoren im Kindesalter. J. Klin. Endokrinol. Stoffw. 16, 132–137 (2023). https://doi.org/10.1007/s41969-023-00214-2

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s41969-023-00214-2

Schlüsselwörter

Keywords

Search

Navigation