High rate of chromosome abnormalities detected by fluorescence in situ hybridization using BCR and ABL probes in adult acute lymphoblastic leukemia

Rieder, Harald; Bonwetsch, C.; Janssen, L. A. J.; Mäurer, J.; Janssen, J. W. G.; Schwartz, Stefan; Ludwig, Wolf‐Dieter; Gaßmann, W.; Bartram, Claus R.; Thiel, Eckhard; Löffler, Helmut; Gökbuget, Nicola; Hoelzer, Dieter; Fonatsch, Christa

doi:10.1038/sj.leu.2401127

Cited by 31 publications

(20 citation statements)

References 33 publications

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“…Since additional karyotypic changes (eg supernumerary Ph, gain or loss of chromosomes 9 and 22, as well as deletions of 9q and 22q) can occur in BCR/ABL + CML, ALL and AML cases, [8][9][10][11][12][13][14] other atypical iFISH patterns could be expected as observed in around one-sixth of all cases studied; conversely, cases with additional cytogenetic changes could present as a typical pattern and potentially be misdiagnosed with iFISH. Exact interpretation of the atypical iFISH patterns obtained in individual cases was dependent on the analysis of metaphases complemented with molecular definition of the breakpoint.…”

Section: Patterns Of Bcr/ablmentioning

confidence: 99%

“…Additional variations to the typical iFISH patterns can be caused by numerical changes such as gain of the Philadelphia (Ph) chromosome, and to deletions of sequences proximal to the breakpoint on chromosome 9 or distal to the breakpoint on chromosome 22. [8][9][10][11][12][13][14] The aim of this study was to determine the incidence of atypical iFISH patterns of BCR/ABL gene rearrangements and to establish the specific underlying molecular abnormalities carried by the neoplastic cells, in a large series of 168 consecutive BCR/ABL + leukemias, which included CML, precursor B-ALL and AML cases.…”

Section: Introductionmentioning

confidence: 99%

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

Primo

Tabernero²,

Rasillo

et al. 2003

Leukemia

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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 + 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 + 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 by FISH on metaphases and molecular determination of the BCR breakpoint. In summary, our results indicate that despite the high incidence of typical iFISH patterns of BCR/ABL gene rearrangements, atypical patterns are also found in BCR/ABL + acute leukemias; the precise definition of the alteration present in individual cases is dependent on metaphase studies and molecular definition of the breakpoint.

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Section: Patterns Of Bcr/ablmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Primo

Tabernero²,

Rasillo

et al. 2003

Leukemia

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“…23,24 FISH was carried out on 55 samples prospectively and on 19 samples rectrospectively by commercially available directly labeled probes for BCR and ABL (VYSIS, Downer's Grove, IL, USA) as described. 14 The cut-off value for false positive nuclei was set at 6% (mean, plus 3 × standard deviation). 14 …”

Section: Cytogenetic Analysis and Fluorescence In Situ Hybridization mentioning

confidence: 99%

“…14 The cut-off value for false positive nuclei was set at 6% (mean, plus 3 × standard deviation). 14 …”

Section: Cytogenetic Analysis and Fluorescence In Situ Hybridization mentioning

confidence: 99%

“…12,13 Dual-color fluorescence in-situ hybridization (FISH) using DNA probes for BCR and ABL is a molecular-cytogenetic method that allows the detection of the Ph translocation on interphase nuclei. The disadvantage of false positives and false negatives of up to 5% each has hampered the diagnosis of a Ph translocation with this method in cases with low blast cell counts, 14 although recent improvements of the probes seem to overcome this problem. 15 Molecular techniques like polymerase chain reaction (RT-PCR) and Southern blot analysis can determine the individual breakpoint of DNA fusion products.…”

Section: Introductionmentioning

confidence: 99%

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Prospective BCR-ABL analysis by polymerase chain reaction (RT-PCR) in adult acute B-lineage lymphoblastic leukemia: reliability of RT-nested-PCR and comparison to cytogenetic data

et al. 2001

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Interphase fluorescence in situ hybridization assay for the detection of 3q21 rearrangements in myeloid malignancies

Wieser

Schreiner

Pirc-Danoewinata

et al. 2001

Genes Chromosomes & Cancer

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In myeloid malignancies, chromosome rearrangements involving band 3q21 are associated with a particularly poor prognosis of the disease. Their sensitive and unequivocal detection is therefore of great clinical importance. In this report, we describe the establishment of an interphase fluorescence in situ hybridization (FISH) assay that complements classical cytogenetic analysis in the diagnosis of such aberrations. PACs that map centromeric and telomeric of known 3q21 breakpoints were labeled with different fluorescent dyes, and the separation of the normally colocalizing signals was used as an indicator of the presence of a 3q21 rearrangement. Two cell lines and 10 primary samples from myeloid leukemia and myelodysplastic syndrome (MDS) patients with 3q21 rearrangements were investigated using the newly established method. The rate of false positivity was determined in 27 control samples from patients with various types of myeloid malignancies. In addition to providing a sensitive and rapid test for the detection of 3q21 aberrations, the interphase FISH assay yields preliminary information about the localization of individual breakpoints. Six of the 10 breakpoints in the patient samples map to an only recently described breakpoint cluster region (BCR) 60 kb centromeric of the originally reported 3q21 BCR. These findings may contribute to the understanding of the molecular basis of the clinical features associated with 3q21 rearrangements.

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High rate of chromosome abnormalities detected by fluorescence in situ hybridization using BCR and ABL probes in adult acute lymphoblastic leukemia

Cited by 31 publications

References 33 publications

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

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

Prospective BCR-ABL analysis by polymerase chain reaction (RT-PCR) in adult acute B-lineage lymphoblastic leukemia: reliability of RT-nested-PCR and comparison to cytogenetic data

Interphase fluorescence in situ hybridization assay for the detection of 3q21 rearrangements in myeloid malignancies

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