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

Nordgren, Ann ; Farnebo, Filip ; Johansson, Bertil LU ; Holmgren, Gösta ; Forestier, Erik ; Larsson, Catharina ; Söderhäll, Stefan ; Nordenskjöld, Magnus and Blennow, Elisabeth (2001) In European Journal of Haematology 66(5). p.297-304
Abstract
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... (More)
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. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
acute lymphoblastic leukemia, childhood, spectral karyotyping (SKY), hyperdiploid, karyotype
in
European Journal of Haematology
volume
66
issue
5
pages
297 - 304
publisher
Wiley-Blackwell
external identifiers
  • pmid:11422408
  • scopus:0034972330
ISSN
1600-0609
DOI
10.1034/j.1600-0609.2001.066005297.x
language
English
LU publication?
yes
id
835f3e3b-dab0-4699-96bd-eecfb01eea6e (old id 1121817)
date added to LUP
2016-04-01 11:47:22
date last changed
2022-03-05 06:30:23
@article{835f3e3b-dab0-4699-96bd-eecfb01eea6e,
  abstract     = {{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.}},
  author       = {{Nordgren, Ann and Farnebo, Filip and Johansson, Bertil and Holmgren, Gösta and Forestier, Erik and Larsson, Catharina and Söderhäll, Stefan and Nordenskjöld, Magnus and Blennow, Elisabeth}},
  issn         = {{1600-0609}},
  keywords     = {{acute lymphoblastic leukemia; childhood; spectral karyotyping (SKY); hyperdiploid; karyotype}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{297--304}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{European Journal of Haematology}},
  title        = {{Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping}},
  url          = {{http://dx.doi.org/10.1034/j.1600-0609.2001.066005297.x}},
  doi          = {{10.1034/j.1600-0609.2001.066005297.x}},
  volume       = {{66}},
  year         = {{2001}},
}