TITLE

Patterns of BCR/ABL gene rearrangements by interphase fluorescence in situ hybridization (FISH) in BCR/ABL+ leukemias: incidence and underlying genetic abnormalities

AUTHOR(S)

Primo, D; Tabernero, M D; Rasillo, A; Sayagues, J M; Espinosa, A B; Chillon, M C; Garcia-Sanz, R; Gutierrez, N; Giralt, M; Hagemeijer, A; San Miguel, J F; Orfao, A

PUB. DATE

June 2003

SOURCE

Leukemia (08876924);Jun2003, Vol. 17 Issue 6, p1124

SOURCE TYPE

Academic Journal

DOC. TYPE

Article

ABSTRACT

Interphase fluorescence in situ hybridization (iFISH) is increasingly used for the identification of BCR/ABL gene rearrangements in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL). In the present study, we have explored the incidence of both typical and atypical iFISH patterns of BCR/ABL gene rearrangements in a series of 168 consecutive BCR/ABL[SUP+] patients - 135 CML, 31 precursor B-ALL and two acute myeloblastic leukemia (AML) cases -- and established their underlying genetic alterations through further molecular and chromosome analyses. Two different FISH probes (Vysis Inc., Downers Grove, IL, USA) were used: the LSI BCR/ABL dual color extra signal (ES) and the dual color dual fusion BCR/ABL probe (D-FISH). Our results show that most BCR/ABL[SUP+] patients (83%, including 88% of all CML, 61% of ALL and one of two AML) displayed typical iFISH patterns of either Major (M) BCR/ABL (87% of CML, 13% of ALL and one of the two AML) or minor (m) BCR/ABL gene rearrangements (1% of all CML and 48% of ALL cases) with the two probes. Further molecular and cytogenetic studies confirmed the presence of such typical rearrangements in all except one of these ALL cases who had coexistence of an MBCR/ABL and an mBCR/ ABL gene rearrangement together with monosomy 9. In the remaining 29 cases (17%), up to five different atypical iFISH patterns were detected with the ES probe. Atypical iFISH patterns were most frequently due to additional numerical changes -- most often supernumerary Philadelphia (Ph) chromosome (7%) but also gain or loss of chromosome 9 (1%) or 22 (1%). Deletion of 9q sequences proximal to the breakpoint were also frequently observed with the ES probe (8%). Application of the D-FISH probe showed that in most of these latter cases (5%) deletion of 22q sequences distal to the breakpoint also occurred. The remaining cases with atypical iFISH had cryptic insertion of BCR in 9q34 (1%). Exact interpretation of each iFISH pattern was supported...

ACCESSION #

9851922

Tags: FLUORESCENCE in situ hybridization;  MYELOID leukemia

 

Related Articles

• Molecular analysis of hematopoietic colonies derived from chronic myeloid leukemia patients: interphase fluorescence in situ hybridization compared with RT-PCR. Thijsen, S F T; Schuurhuis, G J; van Oostveen, J W; Theijsmeijer, A P; Langenhuijsen, M M A C; Ossenkoppele, G J // Leukemia (08876924);Feb97, Vol. 11 Issue 2, p301 

  In this study we compared interphase fluorescence in situ hybridization (I-FISH) with reverse transcription polymerase chain reaction (RT-PCR) for the molecular analysis of hemato-poietic colonies derived from patients with chronic myeloid leukemia (CML). Molecular analysis of individual...

• Clonality analysis of hematopoietic cell lineages in acute myeloid leukemia and translocation (8;21): only myeloid cells are part of the malignant clone. van Lom, K; Hagemeijer, A; Vandekerckhove, F; de Greef, G E; Sacchi, N; L�wenberg, B // Leukemia (08876924);Feb97, Vol. 11 Issue 2, p202 

  Bone marrow from six patients with acute myeloid leukemia (AML) and t(8;21) (q22;q22) or a variant t(8;13;21) was studied by simultaneous analysis..of cell morphology and karyotype. Combination of May-Grunwald-Giemsa (MGG) and fluorescence in situ hybridization (FISH) using probes specific for...

• Chromosome band specific FISH probes allow improved detection of terminal translocations in leukaemic metaphases. Reid, A; Gribble, S M; Andrews, K M; Green, A R; Nacheva, E P // Leukemia (08876924);May2001, Vol. 15 Issue 5, p860 

  Focuses on the use of fluorescent in situ hybridization (FISH) methods in the identification of structural and numerical abnormalities of chromosomes in patients diagnosed with chronic myeloid leukemia (CML). Comparison of FISH with the method whole chromosome painting probe; Application of...

• Myelodysplastic syndrome in children: differentiation from acute myeloid leukemia with a low blast count. Chan, G C F; Wang, W C; Raimondi, S C; Behm, F G; Krance, R A; Chen, G; Freiberg, A; Ingram, L; Butler, D; Head, D R // Leukemia (08876924);Feb97, Vol. 11 Issue 2, p206 

  Bone marrow from six patients with acute myeloid leukemia (AML) and t(8;21) (q22;q22) or a variant t(8;13;21) was studied by simultaneous analysis of cell morphology and karyotype. Combination of May -- Gru �nwald -- Giemsa (MGG) and fluor-escence in situ hybridization (FISH) using probes...

• Spoken presentations.  // Journal of Medical Genetics;Sep2002 Supplement, Vol. 39, pS19 

  Discusses the abstract of the research paper entitled 'Disease response monitored by G-banding and interphase FISH: Lessons from a year of the CML STI571 trial,' by Mark McKinley, D. Throp et al and presented during the British Human Genetics Conference at the University of York in England in...

• Acquisition of the Ph chromosome and BCR-ABL fusion product in AML-M2 and t(8;21) leukemia: cytogenetic and FISH evidence for a late event. Najfeld, V; Geller, M; Troy, K; Scalise, A // Leukemia (08876924);Apr98, Vol. 12 Issue 4, p517 

  A patient with the M2 subtype of AML who had a 45,X,-X,t(8;21) karyotype at diagnosis was found to have the Ph chromosome in one out of 37 evaluated cells 18 months after the initial diagnosis. Interphase FISH studies utilizing a BCR-ABL dual-color probe did not detect a fusion product 4 months...

• Identification of a commonly deleted region at 17p13.3 in leukemia and lymphoma associated with 17p abnormality. Sankar, M; Tanaka, K; Kumaravel, T S; Arif, M; Shintani, T; Yagi, S; Kyo, T; Dohy, H; Kamada, N // Leukemia (08876924);Apr98, Vol. 12 Issue 4, p510 

  Fluorescence in situ hybridization (FISH) was performed in 17 myeloid leukemia patients and seven lymphoid leukemia/ lymphoma patients who exhibited chromosomal abnormalities on the short arm of chromosome 17, in order to detect a commonly deleted region on chromosome band 17p13. Twenty-four...

• Fluorescence in situ hybridization for the detection and monitoring of the Ph-positive clone in chronic myelogenous leukemia: comparison with metaphase banding analysis. Cuneo, A.; Bigon, R.; Emmanuel, B.; Smit, E.; Rigolin, G.M.; Roberti, M.G.; Bardi, A.; Piva, N.; Scapoli, G.; Castoldi, G.; van Den Berghe, H.; Hagemeijer, A. // Leukemia (08876924);Nov98, Vol. 12 Issue 11, p1718 

  In order to analyze the efficiency of interphase FISH for the detection and monitoring of Ph+ cells in chronic myelogenous leukemia (CML) under interferon (IFN) treatment, the following experiments were performed: (1) 98 specimens derived from 32 patients were analyzed in parallel by dual-color...

• Comparison of chromosome banding analysis, interphase-and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases. Schoch, C.; Schnittger, S.; Bursch, S.; Gerstner, D.; Hochhaus, A.; Berger, U.; Hehlmann, R.; Hiddemann, W.; Haferlach, T. // Leukemia (08876924);Jan2002, Vol. 16 Issue 1, p53 

  For the diagnosis of CML and for monitoring of treatment response the detection of the t(9;22)(q34;q11) or the BCR-ABL rearrangement is necessary. Chromosome banding analysis (CA) is still the gold standard but other techniques like Southern blot, fluorescence in situ hybridization (FISH) and...

Read the Article