Abstract
PurposeMucinous ovarian carcinomas (MOCs) are relatively rare. It has been proposed that a subset of mucinous cystadenomas (MCAs) may progress to mucinous borderline tumors (MBTs), and then to MOCs. KRAS is the predominantly mutated gene in MOC; however, other associated mutations and the mechanism underlying carcinogenesis in MOC remain unclear. Here, we assessed molecular genetic alterations in mucinous ovarian tumors and constructed mutation profiles.MethodsUsing the Sanger sequencing method, we assessed genetic mutations (KRAS, BRAF, TP53, and PIK3CA) in 16 cases of MOC, 10 cases of MBT, and 12 cases of MCA.ResultsAmong MOC cases, the prevalence of G12D and G13D KRAS mutations was 43.8% (7/16). No MOC cases showed V600E BRAF and TP53 mutations. Among MBT cases, the prevalence of G12D KRAS mutation was 20.0% (2/10), those of TP53 and PIK3CA mutations were nil, and that of V600E BRAF mutation was 40% (4/10). None of the genetic mutations assessed were detected among MCA cases.ConclusionThese results suggest that MBT with V600E BRAF mutation may rarely progress to MOC, while MBT with G12D or G13D KRAS mutation may more commonly progress to MOC.
Highlights
Ovarian cancer is the most lethal gynecological malignancy worldwide [1]; recently, its incidence has increased
We retrospectively investigated the mutation patterns of BRAF, KRAS, PIK3CA, and TP53 in mucinous cystadenomas (MCAs), mucinous borderline tumors (MBTs), and Mucinous ovarian carcinomas (MOCs) to clarify the role of each gene in mucinous ovarian carcinogenesis
We performed direct sequence analysis on 38 tumors, including 16 MOC, 10 MBT, and 12 MCA specimens to elucidate the genetic profile of mucinous tumors of the ovary
Summary
Ovarian cancer is the most lethal gynecological malignancy worldwide [1]; recently, its incidence has increased. A dualistic model has been proposed for epithelial ovarian cancer: low-grade disease (type I) develops in a stepwise manner from a benign cystadenoma to a borderline tumor, and to a carcinoma, whereas high-grade disease Mucinous ovarian tumors can be classified as type I tumors and mucinous ovarian carcinoma (MOC), which is a rare tumor that represents 2–4% of cases of epithelial ovarian carcinoma [3,4,5,6]. MOC has a good prognosis if diagnosed at an early stage; its prognosis is poor at advanced stages as it tends to be chemoresistant, to platinum drugs [7]. Ovarian borderline tumors are non-invasive cancers, have a good prognosis, and rarely require systemic therapy
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