The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia

Leukemia. 2002 Nov;16(11):2222-7. doi: 10.1038/sj.leu.2402662.

Abstract

We applied multicolor spectral karyotyping (SKY) to a panel of 29 newly diagnosed pediatric pre B-cell ALLs with normal and abnormal G-banded karyotypes to identify cryptic translocations and define complex chromosomal rearrangements. By this method, it was possible to define all add chromosomes in six cases, a cryptic t(12;21)(p13;q11) translocation in six cases, marker chromosomes in two cases and refine the misidentified aberrations by G-banding in two cases. In addition, we identified five novel non-recurrent translocations - t(2;9)(p11.2;p13), t(2;22) (p11.2;q11.2), t(6;8)(p12;p11), t(12;14)(p13;q32) and t(X;8)(p22.3;q?). Of these translocations, t(2;9), t(2;22) and t(12;14) were identified by G-banding analysis and confirmed by SKY. We characterized a t(12;14)( p13;q32) translocation by FISH, and identified a fusion of TEL with IGH for the first time in ALL. We identified a rearrangement of PAX5 locus in a case with t(2;9)(p11.2;p13) by FISH and defined the breakpoint telomeric to PAX5 in der(9)t(3;9)(?;p13). These studies demonstrate the utility of using SKY in combination with G-banding and FISH to augment the precision with which chromosomal aberrations may be identified in tumor cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Artificial Gene Fusion
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosomes, Human / genetics*
  • DNA-Binding Proteins / genetics
  • ETS Translocation Variant 6 Protein
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Male
  • PAX5 Transcription Factor
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins / genetics
  • Spectral Karyotyping*
  • Transcription Factors / genetics
  • Translocation, Genetic

Substances

  • DNA-Binding Proteins
  • PAX5 Transcription Factor
  • PAX5 protein, human
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Transcription Factors