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

Giuseppina Fugazza, Anna Garuti, Stefania Marchelli, Maurizio Miglino, Roberto Bruzzone, Anna Maria Gatti, Sandra Castello, Mario Sessarego

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)173-175
Number of pages3
JournalCancer Genetics and Cytogenetics
Volume163
Issue number2
DOIs
Publication statusPublished - Dec 2005

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

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