Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute myeloid leukaemia M2

E. Hilgenfeld, H. Padilla-Nash, N. McNeil, T. Knutsen, Cristina Montagna, J. Tchinda, J. Horst, W. D. Ludwig, H. Serve, T. Büchner, W. E. Berdel, E. Schröck, T. Ried

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Recurring chromosomal aberrations are of aetiological, diagnostic, prognostic and therapeutic importance in acute myeloid leukaemia (AML). However aberrations are detected in only two thirds of AML cases at diagnosis and recurrent balanced translocations in only 50%. Spectral karyotyping (SKY) enables simultaneous visualization of all human chromosomes in different colours, facilitating the comprehensive evaluation of chromosomal abnormalities. Therefore, SKY was used to characterize 37 cases of newly diagnosed AML-M2, previously analysed using G-banding. In 15/23 patients it was possible to obtain metaphases from viably frozen cells; in 22 additional cases, fixed-cell suspensions were used. Of the 70 chromosomal aberrations identified by SKY, 30 aberrations were detected for the first time, 18 aberrations were redefined and 22 were confirmed. SKY detected two reciprocal translocations, t(X:3) and t(11:19). In five cases, eight structural aberrations resulted in partial gains of chromosome 21, six of which were undetected by G-banding. In 4/5 cases, these resulted in copy number increases for AML1. Amplification of MYC was detected in three cases. Using SKY and FISH, clonal aberrations were identified in 5/18 cases with a presumed normal karyotype: 3/5 aberrations were of known unfavourable prognostic significance. Karyotypes were entered into a custom-designed SKY database, which will be integrated with other cytogenetic and genomic databases.

Original languageEnglish (US)
Pages (from-to)305-317
Number of pages13
JournalBritish Journal of Haematology
Volume113
Issue number2
DOIs
StatePublished - 2001
Externally publishedYes

Fingerprint

Spectral Karyotyping
Chromosomes, Human, Pair 21
Fluorescence In Situ Hybridization
Oncogenes
Acute Myeloid Leukemia
Chromosome Aberrations
Karyotype
Databases
Human Chromosomes
Metaphase
Cytogenetics
Suspensions
Color

Keywords

  • AML-M2
  • Chromosomal aberrations
  • SKY
  • Trisomy 21

ASJC Scopus subject areas

  • Hematology

Cite this

Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute myeloid leukaemia M2. / Hilgenfeld, E.; Padilla-Nash, H.; McNeil, N.; Knutsen, T.; Montagna, Cristina; Tchinda, J.; Horst, J.; Ludwig, W. D.; Serve, H.; Büchner, T.; Berdel, W. E.; Schröck, E.; Ried, T.

In: British Journal of Haematology, Vol. 113, No. 2, 2001, p. 305-317.

Research output: Contribution to journalArticle

Hilgenfeld, E. ; Padilla-Nash, H. ; McNeil, N. ; Knutsen, T. ; Montagna, Cristina ; Tchinda, J. ; Horst, J. ; Ludwig, W. D. ; Serve, H. ; Büchner, T. ; Berdel, W. E. ; Schröck, E. ; Ried, T. / Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute myeloid leukaemia M2. In: British Journal of Haematology. 2001 ; Vol. 113, No. 2. pp. 305-317.
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AU - McNeil, N.

AU - Knutsen, T.

AU - Montagna, Cristina

AU - Tchinda, J.

AU - Horst, J.

AU - Ludwig, W. D.

AU - Serve, H.

AU - Büchner, T.

AU - Berdel, W. E.

AU - Schröck, E.

AU - Ried, T.

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