Structural and numerical variation of FLT3/ITD in pediatric AML

Blood. 2008 May 15;111(10):4930-3. doi: 10.1182/blood-2008-01-117770. Epub 2008 Feb 27.

Abstract

FLT3 internal tandem duplication (FLT3/ITD) is a common somatic mutation in acute myeloid leukemia (AML) with significant variation in the position, length, and number of duplications of the FLT3 gene. We evaluated these physical characteristics in FLT3/ITD-positive patients who were treated on CCG-2941/2961 and correlated them with clinical outcome. Fiftynine of 77 FLT3/ITD-positive patients (77%) had a single ITD, 16 (21%) had 2 ITDs, and 2 (3%) had 3 ITDs. The length of the duplicated region varied from 6 to 51 amino acids, and in all cases amino acid residues Y591-Y597 were duplicated. Structural analysis demonstrated that Y591-Y597 encodes the switch and zipper regions of the juxtamembrane domain of FLT3. In addition, 24 of 77 patients (31%) had duplication of the critical STAT5 docking sites Y589/591. Patients with longer ITDs had a worse relapse-free survival (19% vs 51%, P = .035), while the presence of more than 1 ITD was not clinically significant. Physical characteristics including the length of FLT3/ITD may influence FLT3 activation state by altering its structure and may impact response to therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Binding Sites
  • Child
  • Child, Preschool
  • Crystallography, X-Ray
  • DNA Mutational Analysis
  • Disease-Free Survival
  • Humans
  • Infant
  • Infant, Newborn
  • Leukemia, Myelomonocytic, Acute / diagnosis
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Prognosis
  • Protein Structure, Tertiary
  • STAT5 Transcription Factor
  • Tandem Repeat Sequences*
  • fms-Like Tyrosine Kinase 3 / chemistry*
  • fms-Like Tyrosine Kinase 3 / genetics*

Substances

  • STAT5 Transcription Factor
  • fms-Like Tyrosine Kinase 3