Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia Academic Article uri icon

Overview

MeSH Major

  • DNA Mutational Analysis
  • Leukemia, Myeloid, Acute
  • Mutation
  • Myelodysplastic Syndromes

abstract

  • Therapy-related myelodysplastic syndromes and acute myelogenous leukemia comprise a poor-risk subset of myelodysplastic syndromes and acute myelogenous leukemia. Large-scale mutation profiling efforts in de novo myelodysplastic syndromes have identified mutations that correlate with clinical features, but such mutations have not been investigated in therapy-related myelodysplastic syndromes and acute myelogenous leukemia. Genomic DNA from 38 patient samples were subjected to high throughput polymerase chain reaction and sequenced for TP53, TET2, DNMT3A, ASXL1, IDH1, IDH2, EZH2, EED, SUZ12, RBBP4, SRSF2, U2AF35, and SF3B1. We identified somatic mutations in 16 of 38 (42%) patients. TP53 mutations were the most common lesion, detected in 8 of 38 (21%) patients, followed by TET2 in 4 of 38 (10.5%). Cases with a TP53 mutation or loss of the TP53 locus had a worse overall survival compared to those with wild-type TP53 (8.8 vs. 37.4 months; P=0.0035).

publication date

  • June 6, 2013

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC3669447

Digital Object Identifier (DOI)

  • 10.3324/haematol.2012.076729

PubMed ID

  • 23349305

Additional Document Info

start page

  • 908

end page

  • 12

volume

  • 98

number

  • 6