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Chromosomale Alterationen beim juvenilen Angiofibrom

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Zusammenfassung

Hintergrund

Juvenile Angiofibrome erscheinen histologisch gutartig, wachsen aber lokal aggressiv. Sie treten überwiegend bei männlichen Adoleszenten auf. Als einzige genetische Veränderung sind bisher β-Catenin-Mutationen bei diesem Tumor bekannt.

Material und Methoden

Angiofibromgewebe von 7 Patienten wurde mittels der vergleichenden genomischen Hybridisierung (CGH) auf quantitative Genomveränderungen hin analysiert.

Ergebnisse

In 6 von 7 untersuchten Angiofibromen konnten mit der CGH auf 18 verschiedenen Chromsomen Alterationen nachgewiesen werden. Zugewinne von chromosomalen Abschnitten zeigten sich gehäuft auf den Chromosomen 4q, 6q und 8q. In 4 von 7 Fällen zeigte sich ein vollständiger Verlust des Y-Chromosoms.

Fazit

Die CGH ist zur Analyse chromosomaler Veränderungen bei Angiofibromen geeignet. Mögliche Zielsequenzen für weitere Genomuntersuchungen, v. a. zum Verlust des Y-Chromosoms, konnten lokalisiert werden.

Abstract

Introduction

Despite their benign histological appearance, juvenile angiofibromas, which occur mainly in adolescent males, have a locally aggressive growth pattern. β-catenin-mutations represent their only known genetic abnormality.

Material and methods

Angiofibroma tissue from seven patients was available for comparative genomic hybridization (CGH).

Results

In six out of the seven angiofibromas, CGH detected various abnormalities on 18 different chromosomes. Frequent chromosomal gains were observed on chromosomes 4q, 6q, and 8q. In four out of seven angiofibromas a complete loss of the chromosome Y was detected.

Conclusions

CGH is a suitable method for the examination of angiofibromas for genetic alterations. Considering the sex distribution of this neoplasm, the frequent loss of chromosome Y is of particular interest.

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Danksagung

Die Autoren danken Frau Ulrike Bechtel für die technische Assistenz bei den vergleichenden genomischen Hybridisierungen.

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Authors and Affiliations

  1. Klinik und Poliklinik für Hals-Nasen-Ohren-Heilkunde, Universitätskliniken des Saarlandes, Kirrberger Straße, 66421 , Homburg/Saar

    C. Brunner

  2. Klinik und Poliklinik für Hals-Nasen-Ohren-Heilkunde, Universitätskliniken des Saarlandes, Homburg/Saar

    C. Brunner, M. Praetorius, B. Schick & P. K. Plinkert

  3. Institut für Humangenetik, Universitätskliniken des Saarlandes, Homburg/Saar

    S. Urbschat & V. Jung

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  1. C. Brunner
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  2. S. Urbschat
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  3. V. Jung
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  4. M. Praetorius
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  5. B. Schick
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  6. P. K. Plinkert
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Correspondence to C. Brunner.

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Brunner, C., Urbschat, S., Jung, V. et al. Chromosomale Alterationen beim juvenilen Angiofibrom. HNO 51, 981–985 (2003). https://doi.org/10.1007/s00106-003-0857-3

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  • DOI: https://doi.org/10.1007/s00106-003-0857-3

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