title: 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.affiliation: Dipartimento di Medicina Interna e Dipartimento di Ematologia e Oncologia, Università degli Studi di Genova, Viale Benedetto XV/6, 16132 Genova, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fugazza
authors.forename: Anna
authors.initials: A
authors.lastname: Garuti
authors.forename: Stefania
authors.initials: S
authors.lastname: Marchelli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Miglino
authors.forename: Roberto
authors.initials: R
authors.lastname: Bruzzone
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Gatti
authors.forename: Sandra
authors.initials: S
authors.lastname: Castello
authors.forename: Mario
authors.initials: M
authors.lastname: Sessarego
mesh_terms: 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