Whole exome sequencing reveals the maintained polyclonal nature from primary to metastatic malignant peripheral nerve sheath tumor in two patients with NF1.

ABSTRACT:

Background

Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with high metastatic rates and poor overall patient survival. There are currently no effective therapies, underscoring the pressing need to define the molecular etiologies that underlie MPNST progression. The aim of this study was to examine clonal progression and identify the molecular events critical for MPNST spread.

Methods

In two patients with temporally and spatially distinct metastatic lesions, we employed whole exome sequencing (WES) to elucidate the genetic events of clonal progression, thus identifying the molecular events critical for MPNST spread.

Results

First, we demonstrated shared clonal origins for the metastatic lesions relative to the primary tumors, whi

SUBMITTER: Godec A 

PROVIDER: S-EPMC7317063 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature