Abstract |
The cytogenetic studies and molecular evaluation of a Philadelphia chromosome negative chronic myelogenous leukemia patient with trisomy 21 (100% metaphases) and trisomy 9 (50% metaphases) at diagnosis are described. Fluorescence in situ hybridization revealed an atypical location of the BCR/ABL fusion signal on 9q, which was duplicated in cells with trisomy 9 simulating a double Ph. The patient was successfully treated with Glivec (also known as Gleevec; Novartis, Basel, Switzerland) and achieved complete hematological and cytogenetic response as well as a reduction of BCR/ABL transcripts detected by real-time quantitative PCR.
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Authors | Giuseppina Fugazza, Anna Garuti, Stefania Marchelli, Maurizio Miglino, Roberto Bruzzone, Anna Maria Gatti, Sandra Castello, Mario Sessarego |
Journal | Cancer genetics and cytogenetics
(Cancer Genet Cytogenet)
Vol. 163
Issue 2
Pg. 173-5
(Dec 2005)
ISSN: 0165-4608 [Print] United States |
PMID | 16337863
(Publication Type: Case Reports, Journal Article)
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Topics |
- Chromosomes, Human, Pair 9
- Gene Duplication
- Genes, abl
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Leukemia, Myelogenous, Chronic, BCR-ABL Positive
(genetics)
- Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
(genetics)
- Male
- Middle Aged
- Philadelphia Chromosome
- Polymerase Chain Reaction
- Trisomy
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