Author/Authors :
Fugazza، نويسنده , , Giuseppina and Garuti، نويسنده , , Anna and Marchelli، نويسنده , , Stefania and Miglino، نويسنده , , Maurizio and Bruzzone، نويسنده , , Roberto and Gatti، نويسنده , , Anna Maria and Castello، نويسنده , , Sandra and Sessarego، نويسنده , , Mario، نويسنده ,
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.