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.
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.
Fugazza
Giuseppina
G
Dipartimento di Medicina Interna e Dipartimento di Ematologia e Oncologia, Università degli Studi di Genova, Viale Benedetto XV/6, 16132 Genova, Italy.
Garuti
Anna
A
Marchelli
Stefania
S
Miglino
Maurizio
M
Bruzzone
Roberto
R
Gatti
Anna Maria
AM
Castello
Sandra
S
Sessarego
Mario
M
D002899:Chromosomes, Human, Pair 9; D020440:Gene Duplication; D016313:Genes, abl; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D016133:Polymerase Chain Reaction; D014314:Trisomy