Genomic imbalances in ovarian borderline serous and mucinous tumors

Abstract

We analyzed 25 ovarian borderline tumors (13 serous and 12 mucinous tumors) by comparative genomic hybridization (CGH). Genomic imbalance was detected in 85% of serous tumors and 75% of mucinous tumors. Different patterns of genomic alterations were identified in serous and mucinous tumors. Gain of the X chromosome was common in both serous (30%) and mucinous (42%) tumors. However, gain of chromosome 8 was detected exclusively in 38% of serous and mixed sero-mucinous tumors, but not in any pure mucinous tumors. According to the present and previous studies, gain of chromosome 8 is the most common abnormality in borderline serous tumors. Gain of the same chromosome is also common in high grade and advanced stage serous carcinomas, but uncommon in early stage serous carcinomas. In addition gain of chromosome X is common in borderline serous and mucinous tumors, while loss of chromosome X is predominant in invasive carcinomas. These findings do not support the multi-step progression theory from borderline tumor to high-grade, advanced stage carcinoma, but indicate that the borderline ovarian tumor is a distinct entity. Genes in chromosome 8 may be critical for the development and the differentiation of borderline serous tumors.