Twist1 und Snail/Slug: epithelial-mesenchymale Transition im juvenilen Angiofibrom

Zusammenfassung

Hintergrund

Das juvenile Angiofibrom (JA) ist eine faszinierende fibrovaskuläre Neubildung, die seit 1853 verschiedenste Entstehungstheorien hervorgerufen hat. Während die Konzentration auf einzelne Merkmale des JA keine allgemeine Akzeptanz hervorgerufen hat, erfährt die aktuelle Erklärung der Tumorentstehung des JA auf dem Boden von embryologischen Gefäßrelikten eine wachsende Bedeutung. Im embryologischen Kernprozess der epithelial-mesenchymalen Transition (EMT) spielen die Transkriptionsfaktoren Twist1 und Snail/Slug eine große Rolle, sodass deren Expression im JA im Zusammenhang mit dem embryologischen Erklärungsansatz von hohem Interesse ist.

Material und Methoden

An einem Kollektiv von 19 JA wurden quantitative Realtime-PCR-Analysen sowie immunhistologische Untersuchungen der Transkriptionsfaktoren Twist1, Snail/Slug sowie CD31 (PECAM1) und Vimentin durchgeführt.

Ergebnisse

Die Transkriptionsfaktoren Twist1 und Snail2 konnten in allen untersuchten JA (n=11) mittels RT-PCR nachgewiesen werden. Eine Korrelation zu gefäßreichen (CD31) oder fibrösen Tumorregionen (Vimentin) wurde nicht beobachtet. Die immunhistologische Untersuchung von Twist und Snail/Slug bestätigte deren Vorkommen auf Proteinebene (n=19), wobei eine inter- und intratumorale Heterogenität der EMT-Marker beobachtet wurde.

Schlussfolgerung

Der Nachweis der Expression der Transkriptionsfaktoren Twist1 und Snail/Slug im JA weist auf den embryologischen Prozess der EMT im JA hin und unterstützt den embryologischen Erklärungsansatz, welcher alle klinischen Charakteristika dieser einzigartigen fibrovaskulären Neubildung erklärt.

Summary

Objective

Juvenile angiofibroma (JA) is an intriguing fibrovascular neoplasm that has prompted diverse theories of origin since 1853. While approaches focusing on isolated features of JA have not gained broad acceptance, the current explanation of JA tumorigenesis based on embryologic vascular remnants is gaining prominence. In the core embryologic process of epithelial-mesenchymal transition (EMT), the transcription factors Twist1 and Snail/Slug play key roles; their expression in JA is therefore of particular interest within this embryologic framework.

Material and methods

In a cohort of 19 JAs, quantitative real-time PCR (qRT-PCR) analyses and immunohistochemical investigations were performed for the transcription factors Twist1 and Snail/Slug, as well as for CD31 (Pecam1) and vimentin.

Results

Twist1 and Snail2 were detectable by RT-PCR in all JAs examined (n=11). No correlation was observed with vessel-rich (CD31-positive) or fibrous (vimentin-positive) tumor regions. Immunohistochemistry for Twist1 and Snail/Sslug confirmed protein-level expression (n=19), with inter- and intratumoral heterogeneity of EMT markers.

Conclusions

Demonstration of Twist1 and Snail/Slug expression in JA indicates involvement of the embryologic process of EMT in JA and supports the embryologic explanatory model, which accounts for the clinical characteristics of this unique fibrovascular neoplasm.

Schlüsselwörter

juveniles Angiofibrom - Twist - Snail - epithelial-mesenchymale Transition - Embryologie

Keywords

juvenile angiofibroma - Twist - Snail - epithelial-mesenchymal transition - embryology

Publication History

Received: 11 September 2025

Accepted: 02 December 2025

Article published online:
13 January 2026

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