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Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping

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Author

  • Ann Nordgren
  • Filip Farnebo
  • Bertil Johansson
  • Gösta Holmgren
  • Erik Forestier
  • Catharina Larsson
  • Stefan Söderhäll
  • Magnus Nordenskjöld
  • Elisabeth Blennow

Summary, in English

Spectral karyotyping (SKY) on metaphase spreads from 15 high hyperdiploid (>51 chromosomes) childhood acute lymphoblastic leukemias (ALL), which typically display a poor chromosome morphology, was performed in order to investigate the pattern of numerical abnormalities, reveal the chromosomal origin of marker chromosomes, and identify translocations and other interchromosomal rearrangements not detected by G-banding analysis. In all cases the numerical changes could be fully characterized, and a non-random pattern of chromosomal gain was identified, with chromosomes X, 21, 14, 17, 6, 18, 4, and 10 being most frequently gained. The numerical changes had been partly misinterpreted in 12 of the 15 ALL patients using G-banding, and the present study hence emphasizes the importance of SKY in identifying such anomalies, some of which, i.e. +4 and +10, have been suggested to be prognostically important. The chromosomal origin of all marker chromosomes and of seven structural rearrangements, one of which was the prognostically important Philadelphia chromosome, could be identified. Five rearrangements [der(1)t(1;14)(q32;q21), der(2)t(2;8)(q36;?), der(3)t(2;3)(q21;?), der(8)t(8;14)(?;?), and t(9;21)(q12;q22)] have previously not been reported in ALL, emphasizing the value of SKY in identifying novel chromosomal rearrangements.

Publishing year

2001

Language

English

Pages

297-304

Publication/Series

European Journal of Haematology

Volume

66

Issue

5

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Keywords

  • acute lymphoblastic leukemia
  • childhood
  • spectral karyotyping (SKY)
  • hyperdiploid
  • karyotype

Status

Published

ISBN/ISSN/Other

  • ISSN: 1600-0609