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Case Report

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 volume 26, pages 1125–1127 (2000)Cite this article

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). Bone Marrow Transplantation (2000) 26, 1125–1127.

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Authors and Affiliations

  1. Dipartimento di Scienze Biomediche, Sez di Genetica Medica, Università di Chieti, Italy

    G Calabrese, D Fantasia, PG Franchi, E Morizio, L Stuppia, V Gatta & G Palka

  2. Servizio di Genetica Umana, Italy

    G Calabrese, D Fantasia, PG Franchi, E Morizio & G Palka

  3. Centro Trapianti Midollo Osseo, Italy

    P Olioso

  4. IRCCS Mendel, Roma, Italy

    R Mingarelli

  5. Dipartimento di Ematologia, Ospedale Civile di Pescara, Italy

    A Spadano

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  1. G Calabrese
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Calabrese, G., Fantasia, D., Franchi, P. et al. 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 Transplant 26, 1125–1127 (2000). https://doi.org/10.1038/sj.bmt.1702666

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