Molecular analysis of ovarian mucinous carcinoma reveals different cell of origins.

// Yihong Wang 1, 2 , Lauren Ende Shwartz 2 , Derek Anderson 2 , Ming-Tseh Lin 2 , Lisa Haley 2 , Ren-chin Wu 2, 3 , Russell Vang 2, 4, 5 , Ie-ming Shih 2, 4, 5 , Robert J. Kurman 2, 4, 5 1 Department of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, China 2 Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, 21231, MD, USA 3 Department of Pathology, Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, 33378, Taiwan 4 Department of Gynecology and Obstetrics, Johns Hopkins Medical Institutions, Baltimore, 21231, MD, USA 5 Department of Oncology, Johns Hopkins Medical Institutions, Baltimore, 21231, MD, USA Correspondence to: Robert J. Kurman, e-mail: rkurman@jhmi.edu Keywords: ovarian, mucinous carcinoma, teratoma, microsatellite genotyping, HUMARA assay Received: July 14, 2015      Accepted: August 20, 2015      Published: September 02, 2015 ABSTRACT It is believed that a subset of primary ovarian mucinous tumors is derived from mature teratomas [ 1 – 5 ]. To confirm this, we performed microsatellite genotyping using a variety of short tandem repeat makers and analyzed allelotypes of 8 mucinous tumors (4 mucinous carcinomas, 3 atypical proliferative mucinous tumors and 1 mucinous cystadenoma) associated with a teratoma to determine whether they were clonally related. 7 of the 8 mucinous tumors showed complete or a high degree of homozygosity. Among the 6 pairs of tumors with teratoma tissue available for comparison, 5 of 6 showed a high or complete degree of allelotypes matching, which differed from the somatic allelotypes of the normal control tissue. A discrepancy was detected between carcinoma and teratoma in one pair at several loci, with different X-chromosome inactivation patterns revealed by the HUMARA clonality assay. We also investigated the allelotypes of 16 ovarian mucinous carcinomas without a teratoma in young patients (range 13–30) and in 6 older patients (range 40–67) using the same method. None of these tumors showed pure homozygosity. The number of homozygous loci in this cohort was significantly lower than that in the first. Our results suggest first, that most mucinous tumors associated with a teratoma are derived from the teratoma but occasionally they could be collision tumors and second that the majority of pure mucinous tumors in young women in whom a teratoma is not present are not derived from a teratoma.