Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma.

ABSTRACT:

Background

Olfactory neuroblastoma (ONB) is a rare cancer of the sinonasal tract with little molecular characterization. We performed whole genome sequencing (WGS) on paired normal and tumor DNA from a patient with metastatic-ONB to identify the somatic alterations that might be drivers of tumorigenesis and/or metastatic progression.

Methodology/principal findings

Genomic DNA was isolated from fresh frozen tissue from a metastatic lesion and whole blood, followed by WGS at >30X depth, alignment and mapping, and mutation analyses. Sanger sequencing was used to confirm selected mutations. Sixty-two somatic short nucleotide variants (SNVs) and five deletions were identified inside coding regions, each causing a non-synonymous DNA sequence change. We selected seven SNVs and vali

SUBMITTER: Weiss GJ 

PROVIDER: S-EPMC3359355 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature