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.
Highlights
Ovarian mucinous tumors, including cystadenoma, atypical proliferative mucinous tumor (APMT) and mucinous carcinoma, unlike other ovarian epithelial tumors, frequently occur in young women [3, 6]
A cohort of 8 ovarian mucinous tumors (4 mucinous carcinomas, 3 atypical proliferative (borderline) mucinous tumor (APMT) and 1 mucinous cystadenoma) associated with mature cystic teratomas were included in this study (Table 1, Figure 1)
Clinicopathologic and molecular genetic studies have shown that most epithelial ovarian carcinomas develop from precursor lesions that are müllerian derived which is consistent with their müllerian phenotype
Summary
Ovarian mucinous tumors, including cystadenoma, atypical proliferative (borderline) mucinous tumor (APMT) and mucinous carcinoma, unlike other ovarian epithelial tumors, frequently occur in young women [3, 6]. A subset of mucinous tumors is associated with teratomas and immunohistochemical studies showing that they have similar immunoprofiles supporting the interpretation that the mucinous tumors develop from mucinous epithelium in the teratoma [1,2,3,4] These mucinous neoplasms are generally regarded as primary in the ovary the possibility of a metastasis from a colorectal carcinoma cannot be entirely excluded because their immunophenotypes can be identical [1,2,3,4]. Little is known about zygosity of this entity, with the exception of one recent study investigating a cohort of patients ranging from 31–76 years, mean age 54.4[7] ,which showed heterozygosity in all the tumors To test this hypothesis, we investigated the allelotypes of 16 ovarian mucinous carcinomas in young patients (13–30 years) and in 6 older patients (40–67 years) using the same method discussed above
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