Massively parallel sequencing analysis of mucinous ovarian carcinomas: genomic profiling and differential diagnoses.

ABSTRACT:

Objective

Mucinous ovarian cancer (MOC) is a rare type of epithelial ovarian cancer resistant to standard chemotherapy regimens. We sought to characterize the repertoire of somatic mutations in MOCs and to define the contribution of massively parallel sequencing to the classification of tumors diagnosed as primary MOCs.

Methods

Following gynecologic pathology and chart review, DNA samples obtained from primary MOCs and matched normal tissues/blood were subjected to whole-exome (n = 9) or massively parallel sequencing targeting 341 cancer genes (n = 15). Immunohistochemical analysis of estrogen receptor, progesterone receptor, PTEN, ARID1A/BAF250a, and the DNA mismatch (MMR) proteins MSH6 and PMS2 was performed for all cases. Mutational frequencies of MOCs were compared to th

SUBMITTER: Mueller JJ 

PROVIDER: S-EPMC6105459 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature