Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations

Blood. 2013 Jun 6;121(23):4749-52. doi: 10.1182/blood-2012-11-465138. Epub 2013 Apr 19.

Abstract

Early T-cell precursor (ETP) acute lymphoblastic leukemia (ALL) is a high-risk subgroup of T-lineage ALL characterized by specific stem cell and myeloid features. In adult ETP-ALL, no comprehensive studies on the genetic background have been performed to elucidate molecular lesions of this distinct subgroup. We performed whole-exome sequencing of 5 paired ETP-ALL samples. In addition to mutations in genes known to be involved in leukemogenesis (ETV6, NOTCH1, JAK1, and NF1), we identified novel recurrent mutations in FAT1 (25%), FAT3 (20%), DNM2 (35%), and genes associated with epigenetic regulation (MLL2, BMI1, and DNMT3A). Importantly, we verified the high rate of DNMT3A mutations (16%) in a larger cohort of adult patients with ETP-ALL (10/68). Mutations in epigenetic regulators support clinical trials, including epigenetic-orientated therapies, for this high-risk subgroup. Interestingly, more than 60% of adult patients with ETP-ALL harbor at least a single genetic lesion in DNMT3A, FLT3, or NOTCH1 that may allow use of targeted therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor / genetics*
  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA Methyltransferase 3A
  • Epigenesis, Genetic
  • Exome / genetics*
  • Female
  • Follow-Up Studies
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Precursor Cells, T-Lymphoid / pathology*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Prognosis
  • Receptor, Notch1 / genetics
  • Young Adult
  • fms-Like Tyrosine Kinase 3 / genetics

Substances

  • Biomarkers, Tumor
  • DNMT3A protein, human
  • NOTCH1 protein, human
  • Receptor, Notch1
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3