Affinity-purified DNA-based mutation profiles of endometriosis-related ovarian neoplasms in Japanese patients

• Published in: Oncotarget Vol. 9; no. 19; pp. 14754 - 14763
• Main Authors: Ishikawa, Masako, Nakayama, Kentaro, Nakamura, Kohei, Ono, Ruriko, Sanuki, Kaori, Yamashita, Hitomi, Ishibashi, Tomoka, Minamoto, Toshiko, Iida, Kouji, Razia, Sultana, Ishikawa, Noriyoshi, Kyo, Satoru
• Format: Journal Article
• Language: English
• Published: United States Impact Journals LLC 13.03.2018
• Subjects: Research Paper: Chromosome; ovarian endometrioid carcinoma; liquid microdissection; ovarian clear cell carcinoma; ARID1A; POLE
• ISSN: 1949-2553; 1949-2553
• DOI: 10.18632/oncotarget.24546

Endometriosis-related ovarian neoplasms (ERONs) have recently attracted considerable attention; however, the prevalence and patterns of and mutations in ERONs have not been studied in detail. The aim of this study was to investigate not only the carcinogenesis of ERONs, but also the prognostic significance of several gene mutations in this cohort. We used DNA purified from only tumor epithelial cells, from which fibroblasts were removed, using a specific method we called "liquid microdissection". Tissue samples from 22 ovarian carcinomas (13 endometrioid, and nine clear cell) were used. Tumor cells were isolated using a cell sorting system and DNA was purified from tumor epithelial cells. Nucleotide sequencing was conducted to analyze the mutational status of , and . In ERONs, the frequencies of somatic mutations in , and were 19/20 (95.0%), 7/19 (36.8%), 9/22 (40.9%), 13/19 (68.4%), 3/19 (15.8%), and 1/9 (11.1%). The frequency of mutations was significantly higher than that reported previously. Kaplan-Meier survival analysis revealed that mutations in all genes, including , were not associated with patient prognosis in our Japanese cohort. Our results suggest that the frequency of mutations in ERONs may be higher than that previously reported. In addition, the "liquid microdissection" method that we chose for DNA purification could be used to obtain high-quality sequencing results. The findings suggest that mutations represent the basis of ERON carcinogenesis; other subsequent gene mutations may result in the progression of carcinogenesis.