Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma.

ABSTRACT:

Background

Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare aggressive malignancy often occurring in the tissues of midline anatomical structures. Except for the pathognomonic BRD3/4-NUT rearrangement, the comprehensive landscape of genomic alterations in NMCs has been unexplored.

Patients and methods

We investigated three NMC cases, including two newly diagnosed NMC patients in Seoul National University Hospital, and a previously reported cell line (Ty-82). Whole-genome and transcriptome sequencing were carried out for these cases, and findings were validated by multiplex fluorescence in situ hybridization and using individual fluorescence probes.

Results

Here, we present the first integrative analysis of whole-genome sequencing, transcriptome sequen

SUBMITTER: Lee JK 

PROVIDER: S-EPMC5378225 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature