Abstract
Deletions adjacent to the 9/22 translocation breakpoint on the derivative chromosome 9 have recently been described in a substantial number of chronic myeloid leukemia (CML) cases, but their extension has not been characterized in detail. Using FISH with an appropriate set of BAC/PAC probes, we have characterized the deletion in 10 CML cases, identified by screening 71 patients at diagnosis. Five patients showed a complex chromosome rearrangement and 3 of them were deleted. The size of the deletion was variable, ranging from few hundreds kb to 8 Mb. A minimally deleted region on both chromosomes 9 and 22 was identified and was found to contain the ASS gene on chromosome 9 and IGLL1 on chromosome 22.
Copyright 2002 Wiley-Liss, Inc.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Argininosuccinate Synthase / genetics
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Bone Marrow Cells / pathology
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Chromosome Breakage / genetics*
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Chromosome Deletion*
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Chromosomes, Artificial, Bacterial / genetics
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Chromosomes, Artificial, P1 Bacteriophage / genetics
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Chromosomes, Human, Pair 22 / genetics
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Chromosomes, Human, Pair 9 / genetics*
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DNA Probes / genetics
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DNA, Neoplasm / genetics
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Fusion Proteins, bcr-abl / genetics
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Genetic Markers / genetics
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Humans
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In Situ Hybridization, Fluorescence / methods
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Interferon-alpha / therapeutic use
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
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Male
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Remission Induction / methods
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Translocation, Genetic / genetics
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Tumor Cells, Cultured
Substances
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DNA Probes
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DNA, Neoplasm
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Genetic Markers
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Interferon-alpha
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Fusion Proteins, bcr-abl
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Argininosuccinate Synthase