, Volume 3, Issue 1, pp 1-8
Date: 30 Jan 2014

Pathogenesis of the Endometriosis-Related Ovarian Neoplasms

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Abstract

Among ovarian tumors, clear cell carcinoma, endometrioid adenocarcinoma and endocervical-like mucinous borderline tumor are frequently associated with endometriosis. Clinicopathological and molecular evidences are accumulating, which suggest that most, if not all, endometriosis-related ovarian neoplasms (ERONs) arise from endometriosis. Although clear cell carcinoma, endometrioid carcinoma, and endocervical-like mucinous borderline tumor differ in their morphology and immunophenotype, recent genome-wide analyses have elucidated genetic alterations that are commonly found in ERONs. The major one is somatic mutations of a chromatin-remodeling gene ARID1A. Subsequent studies showed that ARID1A alterations occur at early stage of ERON development, leading to the notion that ARID1A plays a key role in ERON tumorigenesis. Understanding the molecular changes involved in the development of ERON, including ARID1A, is essential for future translational research that can lead to new diagnostic approaches for detection of early neoplastic changes. In this paper, recent evidences of clinicopathological and molecular features of ERONs are reviewed.