Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia Journal Article


Authors: Shih, A. H.; Chung, S. S.; Dolezal, E. K.; Zhang, S. J.; Abdel-Wahab, O. I.; Park, C. Y.; Nimer, S. D.; Levine, R. L.; Klimek, V. M.
Article Title: Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia
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). © 2013 Ferrata Storti Foundation.
Journal Title: Haematologica
Volume: 98
Issue: 6
ISSN: 0390-6078
Publisher: Ferrata Storti Foundation  
Date Published: 2013-06-01
Start Page: 908
End Page: 912
Language: English
DOI: 10.3324/haematol.2012.076729
PROVIDER: scopus
PMCID: PMC3669447
PUBMED: 23349305
DOI/URL:
Notes: --- - "Export Date: 1 July 2013" - "CODEN: HAEMA" - "Source: Scopus"
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MSK Authors
  1. Virginia Klimek
    147 Klimek
  2. Alan H Shih
    59 Shih
  3. Stephen Shiu-Wah Chung
    61 Chung
  4. Stephen D Nimer
    347 Nimer
  5. Ross Levine
    775 Levine
  6. Christopher Yongchul Park
    90 Park
  7. Su-Jiang Zhang
    4 Zhang