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Zur Genetik und Pathogenese des Uterus myomatosus

Genetics and pathogenesis of uterine leiomyoma

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Gynäkologische Endokrinologie Aims and scope

Zusammenfassung

Eine Beziehung zwischen dem Leiomyomwachstum und dem hormonellen Status der Patientinnen ist eindeutig zu erkennen, aber ein Zusammenhang zwischen der Ätiologie des Uterus myomatosus und der Steroidhormone als Ursache des Tumorwachstums ist nicht erwiesen. Möglicherweise regen Östrogen und Progesteron die Proliferation der Myome durch Aktivierung von Protoonkogenen und Wachstumsfaktoren an. Das familiäre Auftreten der Myome ist durch Keimzellmutationen im Fumarathydrogenase-Gen auf dem Chromosom 1 bedingt. Zahlreiche zytogenetisch erfassbare chromosomale Aberrationen finden sich im Myom mit einer Präferenz für die Chromosomen 12 und 7. Da nur ein Teil der uterinen Myome Aberrationen des Chromosomensatzes aufweist, kommt dies als allgemeine Ursache nicht in Frage . Die Aberrationen könnten lediglich ein sekundäres Phänomen in diesem Typus eines benignen Tumors darstellen, jedoch mit Auswirkungen z. B. auf das Wachstumspotenzial des Tumors. Die Microarray-Technik stellt ein neues Werkzeug dar, um die Gene zu erfassen, die in den Leiomyomen des Uterus hoch- bzw. runterreguliert werden.

Abstract

A time-related correlation between the growth of uterine leiomyomata and hormonal status is evident; however, a causative correlation of the etiology of uterine leiomyoma and steroid hormones has not yet been demonstrated. Estrogen and progesterone may mediate the proliferation of the fibroids by activating protooncogenes and growth factors. Germline mutations in the fumarate hydratase gene located on chromosome 1 predispose to uterine fibroids. A number of different chromosomal aberrations are found in many uterine fibroids, preferentially involving chromosomes 12 and 7. These aberrations have to be considered a secondary phenomena rather than causative, though they may stimulate the growth potential of the tumor. Microarray technology represents a new tool for identifying genes responsible for up- or downregulation of genes related to the development of leiomyomata.

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  1. Institut für Pathologie, Universität zu Lübeck, Lübeck

    R. Johannisson

  2. Institut für Pathologie, Universität zu Lübeck, Ratzeburger Allee 160, 23538 , Lübeck

    R. Johannisson

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Johannisson, R. Zur Genetik und Pathogenese des Uterus myomatosus. Gynäkologische Endokrinologie 2, 27–32 (2004). https://doi.org/10.1007/s10304-004-0053-x

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