Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21) in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation

G. Calabrese, D. Fantasia, P. G. Franchi, E. Morizio, L. Stuppia, V. Gatta, P. Olioso, R. Mingarelli, A. Spadano, G. Palka

Research output: Contribution to journalArticle

Abstract

A patient with a Ph-positive chronic myeloid leukaemia (CML) was submitted to allogeneic peripheral blood stem cell transplantation from an HLA-haploidentical related donor 7 years after the diagnosis. Six months later, he showed a disease relapse while cytogenetic analysis displayed a complex karyotype. To characterise the chromosomal rearrangements spectral karyotype (SKY) analysis was used. This redefined all chromosome rearrangements and revealed a t(20;21)(q11;q22). FISH analysis with a specific probe for the AML1 gene disclosed disruption of this gene which was partially translocated on to the long arm of chromosome 20. It is likely that this rearrangement, unusual for CML, was implicated in the disease evolution towards blastic crisis (BC).

Original languageEnglish
Pages (from-to)1125-1127
Number of pages3
JournalBone Marrow Transplantation
Volume26
Issue number10
Publication statusPublished - 2000

Keywords

  • Chimeric gene
  • FISH
  • Philadelphia chromosome
  • SKY

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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    Calabrese, G., Fantasia, D., Franchi, P. G., Morizio, E., Stuppia, L., Gatta, V., Olioso, P., Mingarelli, R., Spadano, A., & Palka, G. (2000). Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21) in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation. Bone Marrow Transplantation, 26(10), 1125-1127.