Establishment of a myeloid leukaemia cell line (Kasumi‐4) with t(9;22;11)(q34;q11;q13), inv(3)(q21q26) and the EVI1 gene activation from a patient with chronic myelogenous leukaemia in blast crisis

Asou, Hiroya; Eguchi, Mariko; Suzukawa, Kazumi; Morishita, Kazuhiro; Tanaka, Kimio; Date, Munehiro; Hamamoto, Kazuko; Kamada, Nanao

doi:10.1046/j.1365-2141.1996.4821023.x

Cited by 14 publications

(5 citation statements)

References 12 publications

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“…Expression of HLA-DR was observed in Kasumi-1, 3 and 6 when established [9,13,15], but was weak or negative in our data. HLA-DR is normally expressed in BCP-ALL, and very low levels of expression in Kasumi-2 and -7 indicated the presence of positive cells in subclonal populations.…”

Section: Cell Surface Markerscontrasting

confidence: 60%

Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations

et al. 2020

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Kasumi-1 has played an important role in an experimental model with t(8;21) translocation, which is a representative example of leukemia cell lines. However, previous studies using Kasumi-1 show discrepancies in the genome profile. The wide use of leukemia cell lines is limited to lines that are well-characterized. The use of additional cell lines extends research to various types of leukemia, and to further explore leukemia pathogenesis, which can be achieved by uncovering the fundamental features of each cell line with accurate data. In this study, ten Kasumi cell lines established in Japan, including five that were previously unknown, have been characterized by SNP microarray and targeted sequencing. SNP genotyping suggested that the genetic ancestry in four of the ten Kasumi cell lines was not classified as Japanese but covered several different east-Asian ethnicities, suggesting that patients in Japan are genetically diverse. TP53 mutations were detected in two cell lines with complex array profiles, indicating chromosomal instability (CIN). A quantitative assessment of tumor genomes at the chromosomal level was newly introduced to reveal total DNA sizes and Scales of Genomic Alterations (SGA) for each cell line. Kasumi-1 and 6 derived from relapsed phases demonstrated high levels of SGA, implying that the level of SGA would reflect on the tumor progression and could serve as an index of CIN. Our results extend the leukemia cellular resources with an additional five cell lines and provide reference genome data with ethnic identities for the ten Kasumi cell lines.Author contribution FK designed the study with input from YK and MK. HA established cell lines. MO and AK contributed to sample preparation. FK and MO performed experiments and analysis. FK, HA, KK, HK, MS, YK and MK contributed to interpretation of data. FK wrote the manuscript in consultation with HA, YK and MK.

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Section: Cell Surface Markerscontrasting

confidence: 60%

Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations

et al. 2020

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“…The Kasumi 4 cell line, derived from a patient with chronic myelogenous leukemia (CML), possesses a variant chromosome 3 homolog with a large q21 ; q26 inversion (Asou et al 1996). Strand-specific hybridization of Kasumi 4 metaphases with closely spaced probe sets—targeted across the known region of the breakpoints and labeled with different fluorochromes—readily identified the inverted homolog as the one in which the red segment switched to the opposite chromatid (Fig.…”

Section: Resultsmentioning

confidence: 99%

Directional genomic hybridization for chromosomal inversion discovery and detection

et al. 2013

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Chromosomal rearrangements are a source of structural variation within the genome that figure prominently in human disease, where the importance of translocations and deletions is well recognized. In principle, inversions—reversals in the orientation of DNA sequences within a chromosome—should have similar detrimental potential. However, the study of inversions has been hampered by traditional approaches used for their detection, which are not particularly robust. Even with significant advances in whole genome approaches, changes in the absolute orientation of DNA remain difficult to detect routinely. Consequently, our understanding of inversions is still surprisingly limited, as is our appreciation for their frequency and involvement in human disease. Here, we introduce the directional genomic hybridization methodology of chromatid painting—a whole new way of looking at structural features of the genome—that can be employed with high resolution on a cell-by-cell basis, and demonstrate its basic capabilities for genome-wide discovery and targeted detection of inversions. Bioinformatics enabled development of sequence- and strand-specific directional probe sets, which when coupled with single-stranded hybridization, greatly improved the resolution and ease of inversion detection. We highlight examples of the far-ranging applicability of this cytogenomics-based approach, which include confirmation of the alignment of the human genome database and evidence that individuals themselves share similar sequence directionality, as well as use in comparative and evolutionary studies for any species whose genome has been sequenced. In addition to applications related to basic mechanistic studies, the information obtainable with strand-specific hybridization strategies may ultimately enable novel gene discovery, thereby benefitting the diagnosis and treatment of a variety of human disease states and disorders including cancer, autism, and idiopathic infertility.Electronic supplementary materialThe online version of this article (doi:10.1007/s10577-013-9345-0) contains supplementary material, which is available to authorized users.

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“…Seven patients had more than one study, facilitating the detection of residual disease after treatment. In addition, a myeloid leukaemia cell line, Kasumi-4 (Asou et al, 1996), with an inv(3)(q21q26.2) was included in the study, as well as 10 negative controls to establish sensitivity, specificity and normal cut off values for the FISH probe strategies. All samples were coded and analysed in a blind fashion.…”

Section: Clinical Samplesmentioning

confidence: 99%

An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies

Bobadilla¹,

Enriquez²,

Álvarez³

et al. 2007

Br J Haematol

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SummaryChromosome rearrangements involving band 3q26.2 are associated with myeloid malignancies, aberrant expression of the human ecotropic virus integration site‐1 (EVI1) gene, an unfavourable prognosis and an aggressive clinical course. The 3q26.2 rearrangements are characteristically heterogeneous and typically difficult to detect in poor quality metaphases. To develop a dual‐colour fluorescence in situ hybridisation (FISH) assay for the detection of 3q26.2/EVI1 aberrations, a series of 10 BAC clones corresponding to the EVI1 gene region were systematically evaluated and narrowed down to two probe sets; one probe set encompassed the EVI1 gene extending centromeric, while the second probe set covered the EVI1 gene and extends telomeric. Both probe sets were evaluated on 35 patient samples with cytogenetically defined 3q26.2 rearrangements collected at various treatment time points, the inv(3)(q21q26.2) Kasumi‐4 cell line, and 10 known negative samples. The two‐probe set strategy identified all samples, despite the vast breakpoint heterogeneity observed. In samples from acute myeloid leukaemia and myelodysplastic syndrome cases, the majority of inversion breakpoints were 3′ to EVI1 whereas 3q26.2 translocation breakpoints frequently mapped 5′ to EVI1. However, two 3q26.2 translocation samples had breakpoints 3′ to EVI1. Most inv(3q) chronic myeloid leukaemia samples showed breakpoints within the EVI1 gene. This study demonstrated that, despite the extensive breakpoint heterogeneity observed with 3q26.2 aberrations, this FISH strategy is effective for the detection of 3q26.2 abnormalities in myeloid malignancies.

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Establishment of a myeloid leukaemia cell line (Kasumi‐4) with t(9;22;11)(q34;q11;q13), inv(3)(q21q26) and the EVI1 gene activation from a patient with chronic myelogenous leukaemia in blast crisis

Cited by 14 publications

References 12 publications

Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations

Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations

Directional genomic hybridization for chromosomal inversion discovery and detection

An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies

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