Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors

open access

Abstract
Conclusions

The diversity of mutational targets suggests multiple routes to tumorigenesis in this heterogeneous group of tumors that is generally distinct from other ovarian subtypes.

Background

Epithelial ovarian tumors have historically been treated as a homogenous group in the clinic, despite clear histopathological and molecular data showing that distinct subgroups exist: serous, endometrioid, clear cell and mucinous. High-grade serous and low-grade serous tumors comprise distinct groups, while endometrioid and clear-cell histologies are different again from serous but with some overlapping genetic events. It is now clear that these molecular distinctions reflect differences in site of origin, with high-grade serous tumors now thought to arise from the fallopian tube fimbriae, low-grade serous tumors from the ovarian epithelium, and clear cell and endometrioid tumors arising from endometriosis, which itself is derived from the endometrium. However, the origin of the mucinous group remains controversial. Many mucinous ovarian tumors (MOTs) formerly classified as primary are now recognized to have been mis-diagnosed metastases from predominantly gastrointestinal or endocervical sites. However, some mucinous tumors do appear to be ovarian primaries, particularly benign and borderline tumors, which generally have a good prognosis not consistent with a metastatic tumor......

Conclusions

......The initiating cell type of mucinous tumors presenting on the ovary remains to be determined; the heterogeneity of the mutations observed here as well as the mutational spectrum suggests that the ovarian surface epithelium is unlikely to be the only source.