Masked Philadelphia chromosome due to atypical BCR/ABL localization on the 9q34 band and duplication of the der(9) in a case of chronic myelogenous leukemia.

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.

• 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)

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