Clinical Implications of Fluorescence In Situ Hybridization Analysis in 13 Chronic Myeloid Leukemia Cases

Yehuda, Orly; Abeliovich, Dvorah; Ben-Neriah, Susana; Sverdlin, Ilana; Cohen, Rachel E.; Váradi, Gábor; Orr, Reuven; Ashkenazi, Yaacov J.; Heyd, Judith; Lugassy, Gilles; Yehuda, Dina Ben

doi:10.1016/s0165-4608(99)00067-9

Cited by 34 publications

(17 citation statements)

References 26 publications

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“…Calabrese et al (1994) claimed to have found evidence of this two-step mechanism by determining remains of chromosome 22 present on the der(9) chromosome, detectable by FISH, in 9/10 variant CML patient samples. Other studies, however, have failed to support these findings (Yehuda et al, 1999). The mechanism of the formation of a variant Ph translocation may have clinical relevance: a two-event mechanism may represent clonal evolution, whereas a variant translocation occurring via a single genomic rearrangement may confer a similar prognosis to the classical Ph translocation.…”

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confidence: 99%

“…The second involves two serial translocations: a classical Ph followed by a further translocation between chromosome 9 and 22 and a third chromosome (Nacheva et al, 1994). Evidence in support of the two-step mechanism includes reports of a number of patients in whom cytogenetic evolution from a classical Ph to variant was observed (Berger et al, 1981;Ishihara & Minamihisamatsu, 1988;Yehuda et al, 1999;Reddy & Sulcova, 2000). Calabrese et al (1994) claimed to have found evidence of this two-step mechanism by determining remains of chromosome 22 present on the der(9) chromosome, detectable by FISH, in 9/10 variant CML patient samples.…”

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confidence: 99%

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Survival implications of molecular heterogeneity in variant Philadelphia‐positive chronic myeloid leukaemia

Reid¹,

Huntly²,

Grace³

et al. 2003

Br J Haematol

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Summary. The BCR-ABL fusion in chronic myeloid leukaemia (CML) is generated by the Philadelphia (Ph) translocation t(9;22) or, in 10% of patients, variants thereof (vPh). Deletion encompassing the reciprocal product (ABL-BCR) from the derivative chromosome 9 [der(9)] occurs in 15% of all patients, but with greater frequency in vPh patients. Reports of physical separation of ABL-BCR in nondeleted patients, as well as evolution from classical to variant Ph, introduce further heterogeneity to the vPh subgroup and raise the possibility that such translocations may herald disease progression. Survival analyses, however, have thus far yielded contradictory results. We assessed the frequency of der(9) deletions, ABL-BCR abrogation, cytogenetic evolution and cryptic rearrangement in a large cohort of 54 patients with vPh CML. Deletions encompassing ABL-BCR were detected in 37% of patients, consistent with a model in which a greater number of chromosome breaks increases the risk of genomic loss. The components of ABL-BCR were physically separated in a further 52% of patients while fused in the remaining 11%. Evolution from classical to vPh was demonstrated in three patients. The difference in survival, as indicated by Kaplan-Meier analysis, was marked between classical and vPh patients (105 vs 60 months respectively; P ¼ 0AE0002). Importantly, this difference disappeared when patients with deletions were removed from the analysis. Our study showed that, despite the existence of several levels of genomic heterogeneity in variant Ph-positive CML, der(9) deletion status is the key prognostic factor.

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confidence: 99%

mentioning

confidence: 99%

Survival implications of molecular heterogeneity in variant Philadelphia‐positive chronic myeloid leukaemia

Reid¹,

Huntly²,

Grace³

et al. 2003

Br J Haematol

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“…Like classical t(9;22), these variants usually lead to a BCR/ABL fusion, which can be confirmed by RT-PCR [11]. The clinical course of these patients does not differ from that of patients carrying the classical t(9;22) [2]. Cytogenetic responses generally begin to appear from 3 to 12 months of treatment with IFN-␣ [12].…”

Section: Discussionmentioning

confidence: 80%

“…Philadelphia chromosome cytogenetic variants in CML are becoming easily characterized using FISH techniques [2,7]. These t(9;22) variants usually involve a third chromosome and complex rearrangements involving only chromosomes 9 and 22 have been rarely described [8][9][10].…”

Section: Discussionmentioning

confidence: 99%

“…Ph variants are found in 5% of CML patients. Such variants consist of complex translocations among three or more chromosomes including 9 and 22 and sometimes result in spuriously Ph negative but BCR/ABL positive CML [2]. In these cases, fluorescence in situ hybridization (FISH) is a useful technique to determine the location of the BCR/ ABL fusion gene [3].…”

Section: Introductionmentioning

confidence: 99%

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Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization

Martín‐Subero

Lahortiga

Gómez

et al. 2001

Cancer Genetics and Cytogenetics

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An unusual cytogenetic rearrangement, described as ins(22;9)(q11;q34q21), was detected in a 49-year-old male patient diagnosed with chronic myeloid leukemia (CML). Reverse transcriptase polymerase chain reaction (RT-PCR) revealed a b3a2 fusion transcript. In order to confirm the cytogenetic findings and fully characterize the inverted insertion, we performed fluorescence in situ hybridization (FISH) assays using locus-specific and whole chromosome painting probes. Our FISH analysis showed the presence of the BCR/ABL fusion gene, verified the insertion and determined that the breakpoint on chromosome 22 where the insertion took place was located proximal to the BCR gene and distal to the TUPLE1 gene on 22q11.

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Chronic Myeloid Leukemia

and¹,

Johansson²

2010

Cancer Cytogenetics

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Clinical Implications of Fluorescence In Situ Hybridization Analysis in 13 Chronic Myeloid Leukemia Cases

Cited by 34 publications

References 26 publications

Survival implications of molecular heterogeneity in variant Philadelphia‐positive chronic myeloid leukaemia

Survival implications of molecular heterogeneity in variant Philadelphia‐positive chronic myeloid leukaemia

Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization

Chronic Myeloid Leukemia

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