Molecular alterations of the IDH1 gene in AML: A Children's Oncology Group and Southwest Oncology Group study

P. A. Ho, T. A. Alonzo, K. J. Kopecky, K. L. Miller, J. Kuhn, R. Zeng, R. B. Gerbing, S. C. Raimondi, B. A. Hirsch, V. Oehler, C. A. Hurwitz, J. L. Franklin, A. S. Gamis, S. H. Petersdorf, J. E. Anderson, G. H. Reaman, L. H. Baker, C. L. Willman, I. D. Bernstein, J. P. RadichF. R. Appelbaum, D. L. Stirewalt, S. Meshinchi

Research output: Contribution to journalArticlepeer-review


Recent whole-genome sequencing efforts led to the identification of IDH1R132 mutations in acute myeloid leukemia (AML) patients. We studied the prevalence and clinical implications of IDH1 genomic alterations in pediatric and adult AML. Diagnostic DNA from 531 AML patients treated on Children's Oncology Group trial COG-AAML03P1 (N=257), and Southwest Oncology Group trials SWOG-9031, SWOG-9333 and SWOG-9500 (N=274), were tested for IDH1 mutations. Codon R132 mutations were absent in the pediatric cohort, but were found in 12 of 274 adult patients (4.4%, 95% CI 2.3-7.5). IDH1 R132 mutations occurred most commonly in patients with normal karyotype, and those with FLT3/ITD and NPMc mutations. Patients with IDH1 R132 mutations trended toward higher median diagnostic white blood cell counts (59.2 × 109 vs 29.1 × 109 per liter, P=0.19) than those without mutations, but the two groups did not differ significantly in age, bone marrow blast percentage, overall survival or relapse-free survival. Eleven patients (2.1%) harbored a novel V71I sequence alteration, which was found to be a germ-line polymorphism. IDH1 mutations were not detected in pediatric AML, and are uncommon in adult AML.

Original languageEnglish (US)
Pages (from-to)909-913
Number of pages5
Issue number5
StatePublished - May 2010


  • Acute myeloid leukemia
  • FLT3
  • IDH1
  • Isocitrate dehydrogenase
  • NPM
  • Pediatric AML

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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