Ovarian mucinous tumors arising from mature cystic teratomas—a molecular genetic approach for understanding the cellular origin

• Published in: Human pathology 2014-04, Vol.45 (4), p.717-724
• Main Authors: Fujii, Kaho, Yamashita, Yoriko, MD, PhD, Yamamoto, Toshimichi, PhD, Takahashi, Koji, Hashimoto, Katsunori, PhD, Miyata, Tomoko, MD, PhD, Kawai, Kumi, MD, PhD, Kikkawa, Fumitaka, MD, PhD, Toyokuni, Shinya, MD, PhD, Nagasaka, Tetsuro, MD, PhD
• Format: Article
• Language: English
• Subjects: Adenocarcinoma, Mucinous - genetics; Adenocarcinoma, Mucinous - pathology; Adult; Deoxyribonucleic acid; DNA; Female; Humans; Laser Capture Microdissection; Mature cystic teratoma; Microsatellite Repeats; Middle Aged; Mucinous tumor of the ovary; Neoplasms, Multiple Primary - genetics; Neoplasms, Multiple Primary - pathology; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Pathology; Patients; Short tandem repeat analysis; Teratoma - genetics; Teratoma - pathology; Tumors; Zygosity
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2013.10.031

Summary Mucinous tumors of the ovary are frequently associated with mature cystic teratomas, and it has been speculated that the mucinous tumors arise from teratoma components. The cellular origins of mature cystic teratomas are believed to be post-meiotic ovarian germ cells, and the analysis of microsatellite markers such as short tandem repeats is suitable for determining the cellular origin of tumors. In this study, we analyzed 3 ovarian mature cystic teratomas, all of which were associated with simultaneous ovarian mucinous tumors within the same ovary. Two of the 3 mucinous tumors were intestinal-type and the other was endocervical type. A laser capture microdissection technique was used to separate the epithelial component of the mucinous tumor, the components of the mature cystic teratoma, and control ovarian somatic tissue. Using short tandem repeat analysis based on 6 markers (D20S480, D6S2439, D6S1056, D9S1118, D4S2639, and D17S1290), we could distinguish the germ cell (homozygous) or somatic (heterozygous) origin of a given component in each sample. The epithelial components of the intestinal-type mucinous tumors in cases 1 and 2 were homozygous, and the epithelial component in case 3 (endocervical type) was heterozygous. All teratomatous components were homozygous, and the control components were heterozygous. In addition, we analyzed 3 mature cystic teratomas without mucinous tumors, and all 3 were homozygous in the tumor component. Our data suggest that the origin of mucinous tumors in the ovary may differ among histological subtypes, and intestinal-type mucinous tumors may arise from mature cystic teratomas, although endocervical-type mucinous tumors may not.