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Nat Commun ; 10(1): 3935, 2019 09 02.
Artículo en Inglés | MEDLINE | ID: mdl-31477716

RESUMEN

Mucinous ovarian carcinoma (MOC) is a unique subtype of ovarian cancer with an uncertain etiology, including whether it genuinely arises at the ovary or is metastatic disease from other organs. In addition, the molecular drivers of invasive progression, high-grade and metastatic disease are poorly defined. We perform genetic analysis of MOC across all histological grades, including benign and borderline mucinous ovarian tumors, and compare these to tumors from other potential extra-ovarian sites of origin. Here we show that MOC is distinct from tumors from other sites and supports a progressive model of evolution from borderline precursors to high-grade invasive MOC. Key drivers of progression identified are TP53 mutation and copy number aberrations, including a notable amplicon on 9p13. High copy number aberration burden is associated with worse prognosis in MOC. Our data conclusively demonstrate that MOC arise from benign and borderline precursors at the ovary and are not extra-ovarian metastases.


Asunto(s)
Adenocarcinoma Mucinoso/genética , Carcinoma Epitelial de Ovario/genética , Perfilación de la Expresión Génica/métodos , Neoplasias Ováricas/genética , Adenocarcinoma Mucinoso/clasificación , Adenocarcinoma Mucinoso/metabolismo , Carcinoma Epitelial de Ovario/clasificación , Carcinoma Epitelial de Ovario/metabolismo , Estudios de Cohortes , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Mutación , Neoplasias Ováricas/clasificación , Neoplasias Ováricas/metabolismo , Análisis de Secuencia de ADN/métodos , Análisis de Supervivencia
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