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 journalArticle

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

Fingerprint

Philadelphia Chromosome
Metaphase
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Cytogenetics
Down Syndrome
Fluorescence In Situ Hybridization
Switzerland
Real-Time Polymerase Chain Reaction
Imatinib Mesylate
Trisomy Chromosome 9

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

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

In: Cancer Genetics and Cytogenetics, Vol. 163, No. 2, 12.2005, p. 173-175.

Research output: Contribution to journalArticle

Fugazza, Giuseppina ; Garuti, Anna ; Marchelli, Stefania ; Miglino, Maurizio ; Bruzzone, Roberto ; Gatti, Anna Maria ; Castello, Sandra ; Sessarego, Mario. / 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. In: Cancer Genetics and Cytogenetics. 2005 ; Vol. 163, No. 2. pp. 173-175.
@article{51310f690fb94cd980bcea76d293f07f,
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.",
author = "Giuseppina Fugazza and Anna Garuti and Stefania Marchelli and Maurizio Miglino and Roberto Bruzzone and Gatti, {Anna Maria} and Sandra Castello and Mario Sessarego",
year = "2005",
month = "12",
doi = "10.1016/j.cancergencyto.2005.05.010",
language = "English",
volume = "163",
pages = "173--175",
journal = "Cancer Genetics and Cytogenetics",
issn = "0165-4608",
publisher = "Elsevier Inc.",
number = "2",

}

TY - JOUR

T1 - 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

AU - Fugazza, Giuseppina

AU - Garuti, Anna

AU - Marchelli, Stefania

AU - Miglino, Maurizio

AU - Bruzzone, Roberto

AU - Gatti, Anna Maria

AU - Castello, Sandra

AU - Sessarego, Mario

PY - 2005/12

Y1 - 2005/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=28744446144&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=28744446144&partnerID=8YFLogxK

U2 - 10.1016/j.cancergencyto.2005.05.010

DO - 10.1016/j.cancergencyto.2005.05.010

M3 - Article

C2 - 16337863

AN - SCOPUS:28744446144

VL - 163

SP - 173

EP - 175

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 2

ER -