Genetic diagnosis of pseudomyxoma peritonei originating from mucinous borderline tumor inside an ovarian teratoma.

ABSTRACT:

Background

Pseudomyxoma peritonei is a rare disease condition mainly caused by primary mucinous tumors from the appendix and rarely from the ovary, such as when mucinous ovarian tumors arise from within a teratoma. Molecular analyses of pseudomyxoma from the appendix showed that KRAS and GNAS pathogenic variants are common genetic features of pseudomyxoma peritonei. However, the origin of the tumors is difficult to be identified via genetic variants alone. This study presents a case of pseudomyxoma peritonei of ovarian origin, which was diagnosed by comprehensive genomic profiling with ploidy analysis in a series of primary, recurrent, and autopsy tumor specimens.

Case presentation

A 40-year-old woman was diagnosed with Stage IC2 mucinous ovarian tumor of borderline malignan

SUBMITTER: Taguchi A 

PROVIDER: S-EPMC8900394 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature