Only SETBP1 hotspot mutations are associated with refractory disease in myeloid malignancies.

ABSTRACT:

Introduction

SETBP1 mutations have been established as a diagnostic marker in myeloid malignancies and are associated with inferior survival. Since there is limited data on their clinical impact and stability during disease progression, we sought to investigate the relationship between SETBP1 mutations and disease evolution.

Methods

Bidirectional Sanger sequencing of the SETBP1 gene was performed for 442 unselected patients with World Health Organization (WHO) defined myeloid disorders. Follow-up analysis was performed on samples from 123/442 patients to investigate SETBP1 mutation dynamics. Targeted deep next-generation sequencing for a panel of 30 leukemia-associated genes was established to study SETBP1 cooperating mutations.

Results

10/442 patients (2.3%) had SETB

SUBMITTER: Winkelmann N 

PROVIDER: S-EPMC11819309 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature