Der Chirurg

, 80:122 | Cite as

Indikation und Durchführung endokrin-chirurgischer Operationen

Bedeutung molekulargenetischer Untersuchungen
  • P.E. Goretzki
  • D. Wirowski
  • K. Schwarz
  • P. Pohl
  • H. Böhner
  • A. Starke
  • B.J. Lammers
Leitthema

Zusammenfassung

Die molekulargenetische Veränderungen einiger endokriner Tumoren sind zu Teilen aufgeklärt und spiegeln die ätiologische Grundlage der Entwicklung dieser sporadischen und familiären Erkrankungen wider. Für familiäre endokrine Tumoren, die oft im Rahmen von Syndromerkrankungen entstehen, hat dies schon jetzt klinisch praktische Auswirkungen. Sie liegen im teilweise veränderten chirurgischen Vorgehen, in der Suche nach weiteren, meist endokrin aktiven Tumoren und in der Untersuchung von Familienmitgliedern zur Entdeckung weiterer Genträger (Träger der spezifischen Mutation) und gegebenenfalls einer prophylaktischen Tumortherapie. Für sporadische endokrine Tumoren verfügen wir dagegen über weit weniger klinisch verwendbare Erkenntnisse.

Ausgehend von der Anamnese und dem klinischen Befund eines endokrin aktiven Tumors werden die derzeitigen Möglichkeiten einer molekulargenetischen Abklärung (Keimbahn- und Tumor-DNA) auf krankheitsspezifische Mutationen hin diskutiert und deren Bedeutung für das endokrin-chirurgische Vorgehen dargestellt.

Schlüsselwörter

Molekulargenetische Tests Endokrine Syndrome Endokrin-chirurgisches Vorgehen Familiäre Tumorerkrankungen Multiple endokrine Neoplasie 

Indication and performance of endocrine surgery

The significance of molecular genetic examination

Abstract

The molecular genetic changes from certain endocrine tumors are already understood, reflecting as they do the etiology of these sporadic familial disorders. This already has clinical consequences to the treatment of familial endocrine tumors, which often appear in the course of syndromatic disorders. These consequences consist in slight changes to surgical technique, the search for other active and usually endocrinal tumors, and examination of family members for other gene carriers (of disease-specific mutations) and the most suitable prophylactic tumor therapy. In contrast, for sporadic endocrine tumors there exists far less clinically relevant knowledge. Starting with anamnesis and clinical findings of active endocrine tumors, we discuss the current possibilities for molecular genetic determination of disease-specific mutations (germline and tumor DNA) and their effect on surgical procedure.

Keywords

Genetic testing Endocrine syndromes Surgery for endocrine tumors Familial tumors Multiple endocrine neoplasia type 

Notes

Interessenskonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

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Copyright information

© Springer Medizin Verlag 2008

Authors and Affiliations

  • P.E. Goretzki
    • 1
  • D. Wirowski
    • 1
  • K. Schwarz
    • 1
  • P. Pohl
    • 1
  • H. Böhner
    • 1
  • A. Starke
    • 2
  • B.J. Lammers
    • 1
  1. 1.Chirurgische Klinik 1Städtisches Lukaskrankenhaus Neuss und Insulinoma und GEP-Tumor Center Neuss-DüsseldorfNeussDeutschland
  2. 2.Medizinische Klinik der Universitätskliniken DüsseldorfDüsseldorfDeutschland

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