Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.

ABSTRACT: In this proof-of-principle study, we sought to define whether targeted capture massively parallel sequencing can be employed to determine the origin of metastatic deposits in cases of synchronous primary malignancies and metastases in distinct anatomical sites. DNA samples extracted from synchronous tumor masses in the breast, adnexal, and pelvic-peritoneal regions from a 62-year-old BRCA1 germline mutation carrier were subjected to targeted massively parallel sequencing using a platform comprising 300 cancer genes known to harbor actionable mutations. In addition to BRCA1 germline mutations, all lesions harbored somatic loss of the BRCA1 wild-type allele and TP53 somatic mutations. The primary breast cancer displayed a TP53 frameshift (p.Q317fs) mutation, whereas and the adnexal lesion ha

SUBMITTER: De Mattos-Arruda L 

PROVIDER: S-EPMC5528499 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature