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Zusammenfassung
Ovarialkarzinome sind eine epidemiologisch und pathogenetisch heterogene Gruppe maligner epithelialer Neoplasien. Nach einer kurzen Übersicht über verschiedene Progressionswege mit ihren Vorläuferläsionen gilt die besondere Aufmerksamkeit vor allem zwei Bereichen, in denen sich in den letzten Jahren Paradigmenwechsel vollzogen haben. Mutationsanalysen von klarzelligen Karzinomen, endometrioden Karzinomen und Endometriosen konnten Mutationen im Gen ARID1A als gemeinsame, frühe genetische Veränderung in endometrioseassoziierten Tumoren und atypischer Endometriose identifizieren. Durch eingehende pathologische Aufarbeitung der Tuben von Mutationsträgerinnen der BRCA1/BRCA2-Gene wurde das seröse tubare intraepitheliale Karzinom (STIC) gefunden. Weitere Analysen zeigten diese Läsion auch bei 50–60% aller Patientinnen mit „high grade“ serösem Ovarialkarzinom aber ohne BRCA-Mutation. Vor-Vorläufer in den Tuben mit Mutation in p53 aber ohne Proliferationsaktivität (p53-Signatur) belegen, dass diese In-situ-Karzinome und mögliche Vorläufer eines Teils der serösen Ovarialkarzinome mit großer Wahrscheinlichkeit in den Tuben entstanden sind.
Abstract
Ovarian carcinomas consist of a heterogenous group of malignant epithelial neoplasms with specific pathogenic mechanisms. This review provides a brief introduction to the different pathways of tumor progression and the associated molecular changes. However, the main focus will be on two areas with major paradigm shifting developments in recent years. Mutational analysis of ovarian clear cell carcinomas, endometrioid carcinomas and endometriotic lesions identified mutations in the ARID1A gene as common and early genetic changes in carcinomas with associated endometriosis and in atypical endometriosis itself. Extensive pathological work-up of the fallopian tubes of BRCA1/2 mutation carriers have demonstrated the existence of serous tubal intraepithelial carcinomas (STIC). Further studies showed that this lesion can also be found in 50–60% of patients with serous ovarian carcinomas without BRCA1/2 germline mutations. Pre-precursors which share the p53 mutations with STICs but proliferate very little are called p53-signatures and provide conclusive evidence that STICs develop in the fallopian tubes.
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Staebler, A. Vorläuferläsionen der Ovarialkarzinome. Pathologe 32 (Suppl 2), 265 (2011). https://doi.org/10.1007/s00292-011-1488-1
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DOI: https://doi.org/10.1007/s00292-011-1488-1
Schlüsselwörter
- Präneoplasien
- Ovarialneoplasien
- Borderlinetumoren
- Atypische Endometriose
- Seröses tubares intraepitheliales Karzinom
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