Chronic myeloid leukaemia with BCR–ABL fusion genes located to both chromosomes 9, cyclic leukocytosis and nodal T-lymphoblastic transformation – durable complete remission following imatinib therapy

Dufva, Inge Høgh; Karle, Hans; Brøndum‐Nielsen, Karen; Andersen, M. S.; Madsen, H. O.; Johnsen, Hans Erik

doi:10.1038/sj.leu.2403662

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…Of special interest, the patients in present study had two BCR/ABL fusion gene in each cell located at 9q34. Six similar Ph-ve cases with double BCR/ABL fusion genes have been published previously [12]; four were in chronic phase, two were in myeloid blast crisis. In agreement with hypothesis of Hagemeijer et al [3], we presume that the first molecular and cytogenetic event in bone marrow cells of both patients could be the insertion of the 5 0 part of the BCR gene within or at the 5 0 side of the ABL gene on chromosome 9.…”

Section: Discussionmentioning

confidence: 88%

“…It was repeatedly hypothesized, based on the course of the disease of previously published cases that prognosis of patients with two Ph chromosomes and/or BCR/ABL gene located on one or both chromosome 9 is generally very poor [11]. Out of six cases reported in the literature, only one received imatinib treatment and achieved complete response [12]. Both the patients received imatinib treatment; it may be stated that the therapy with Glivec proved to be efficient from clinical point of view.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, only six cases with BCR/ ABL positive CML with localization of fused gene on both the homologues of chromosome 9 in region 9q34 are reported among which the last case was reported in 2005 [11,12]. Here, we report two more patients with Ph-ve, BCR/ABL positive CML with localization of fused gene on both the homologues of chromosome 9 in region 9q34 with the results of conventional cytogenetics and fluorescence in situ hybridization (FISH).…”

Section: Introductionmentioning

confidence: 99%

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Location of the BCR/ABL Fusion Genes on Both Chromosomes 9 in Ph Negative Young CML Patients: An Indian Experience

Brahmbhatt

Trivedi

Patel

et al. 2014

Indian J Hematol Blood Transfus

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The BCR/ABL gene rearrangement is cytogenetically visualized in most chronic myeloid leukemia (CML) cases. About 5-10 % of CML patients lack its cytogenetic evidence, however, shows BCR/ABL fusion by molecular methods. We describe two CML patients with Philadelphia (Ph) negative (-ve) and BCR/ABL positive by fluorescence in situ hybridization (FISH). Both the cases were in chronic phase at diagnosis. Conventional cytogenetics and different FISH assays were adopted using BCR/ABL probes. Home-brew FISH assay using bacterial artificial clone (BAC) for BAC-CTA/bk 299D3 for chromosomal region 22q13.31-q13.32 was performed in case 1. Both the patients were Ph-ve. In first case, dual color dual fusion (DCDF)-FISH studies revealed 1 Red (R) 2 Green (G) 1 Fusion (F) signal pattern in 80 % of cells indicating BCR/ABL fusion signals on chromosomes 9 instead of Ph and 2G2F signal pattern in 20 % of cells indicating two BCR/ABL fusions on both chromosomes 9q34 on presentation. In second case, FISH studies revealed the 1R1G1F signal pattern indicating BCR/ABL fusion signals on chromosomes 9 instead of Ph in 100 % of cells at presentation. During follow-up, both the patients exhibited 2G2F signal pattern indicating two BCR/ABL fusions on both chromosomes 9q34, which indicated a clonal evolution in 100 % cells. Both the patients did not achieve therapeutic response. Relocation of BCR/ABL fusion sequence on sites other than 22q11 represents a rare type of variant Ph, the present study highlights the hot spots involved in CML pathogenesis and signifies their implications in Ph-ve BCR/ABL positive CML. This study demonstrated the genetic heterogeneity of this subgroup of CML and strongly emphasized the role of metaphase FISH, especially in Ph-ve CML cases, as it detects variations of the classical t(9;22).

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Location of the BCR/ABL Fusion Genes on Both Chromosomes 9 in Ph Negative Young CML Patients: An Indian Experience

Brahmbhatt

Trivedi

Patel

et al. 2014

Indian J Hematol Blood Transfus

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Cytogenetic, fluorescence in situ hybridization, and genomic array characterization of chronic myeloid leukemia with cryptic BCR-ABL1 fusions

Shao¹,

Miller²,

Keller‐Ramey³

et al. 2015

Cancer Genetics

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FISH mapping of Philadelphia negative BCR/ABL1 positive CML

et al. 2008

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Background: Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, almost always characterized by the presence of the Philadelphia chromosome (Ph), usually due to t(9;22)(q34;q11) or its variants. The Ph results in the formation of the BCR/ABL1 fusion gene, which is a constitutively activated tyrosine kinase. Around 1% of CML patients appear to have a Ph negative karyotype but carry a cryptic BCR/ABL1 fusion that can be located by fluorescence in situ hybridisation (FISH) at chromosome 22q11, 9q34 or a third chromosome. Here we present FISH mapping data of BCR and ABL1 flanking regions and associated chromosomal rearrangements in 9 Ph negative BCR/ABL1 positive CML patients plus the cell line CML-T1.

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Chronic myeloid leukaemia with BCR–ABL fusion genes located to both chromosomes 9, cyclic leukocytosis and nodal T-lymphoblastic transformation – durable complete remission following imatinib therapy

Cited by 3 publications

References 9 publications

Location of the BCR/ABL Fusion Genes on Both Chromosomes 9 in Ph Negative Young CML Patients: An Indian Experience

Location of the BCR/ABL Fusion Genes on Both Chromosomes 9 in Ph Negative Young CML Patients: An Indian Experience

Cytogenetic, fluorescence in situ hybridization, and genomic array characterization of chronic myeloid leukemia with cryptic BCR-ABL1 fusions

FISH mapping of Philadelphia negative BCR/ABL1 positive CML

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