Occurrence of TEL-AML1 fusion resulting from (12;21) translocation in human early B-lineage leukemia cell lines

Uphoff, Cord C.; MacLeod, Roderick A.F.; Denkmann, Sabine A.; Golub, Todd R.; Janssen, J. W. G.; Drexler, Helmut

doi:10.1038/sj.leu.2400571

Cited by 76 publications

(44 citation statements)

References 17 publications

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“…52,53 possibly explaining the secondary chromosome instability in leukemia we have observed close to rearranged oncogenes. 54 We also found a stable, complex rearrangement -a four-way translocation and inversion -in a pre-B ALL cell line (REH) dedicated to non-reciprocal fusion of TEL with AML1, 55 supporting the inference that complex changes in HDLM cells, eg, the putative five-way t(8;2;13;22;14) might also be facilitatory. Several reports link JT with interstitial telomere sequences, 56,57 whether random as suggested by Andreasson et al 58 or facilitatory as implied by the current report.…”

Section: Instabilitymentioning

confidence: 70%

Karyotypic dissection of Hodgkin's disease cell lines reveals ectopic subtelomeres and ribosomal DNA at sites of multiple jumping translocations and genomic amplification

MacLeod

Spitzer

Bar‐Am³

et al. 2000

Leukemia

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Although the neoplastic significance of the chromosome changes widespread in Hodgkin's disease (HD) remains obscure, a distinct cytogenetic picture has emerged combining aneuploidy with structural rearrangements clustered at certain breakpoints. Notably absent are the recurrent chromosome translocations which distinguish other hematopoietic neoplasms and serve as clues to underlying oncogene alterations. The paucity of neoplastic cells in HD biopsies hinders detailed chromosome analysis. As an alternative, we investigated a panel of well characterized cell lines by classical and molecular cytogenetics, using single-gene and subtelomeric probes, including three autologous HD examples (HDLM-1/2/3) analyzed by 'spectral karyotyping' -the first complete HD karyotype to be documented. Although complex, most rearrangements in HDLM cells arose in vivo and included few rare but many typical HD breakpoints, notably at the r(ibosomal)DNA regions. Two types of genomic rearrangement involving DNA repeats were conspicuous: insertion and genomic amplification/coamplification of rDNA -the first genomic rDNA rearrangements to be reported in a tumor cell, and the first example of multiple 'jumping translocations' (JT). Of four subtelomeric microsatellite repeats tested in HDLM cells, three exhibited interstitial sites at JT, of which two (at 5qter and 9pter) were respectively associated with deletion of the 5q31-32 myeloid region, and coamplification of a recently described HD-recurrent amplicon at 9p2 together with transcriptionally silent rDNA. Altogether, three out of four HD cell lines carried interstitial 9p subtelomeres and rDNA rearrangements. Taken together, these data suggest tumorigenic rearrangements may be facilitated by 'hitchhiking' along with mobile DNA repeat sequences which may target gene rearrangement at 9p in HD. Southern analysis of parallel rearrangements within rDNA intergenic spacers in HDLM cells highlighted several at, or near, retroposons. As well as validating HD cell lines as cytogenetic models, and resources for identifying genes rearranged in HD, our findings warrant further investigation of the roles of DNA repeat sequences, notably subtelomeric microsatellites, rDNA spacer sequences and retroposons as facilitators and markers of tumor-gene rearrangement.

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Section: Instabilitymentioning

confidence: 70%

Karyotypic dissection of Hodgkin's disease cell lines reveals ectopic subtelomeres and ribosomal DNA at sites of multiple jumping translocations and genomic amplification

MacLeod

Spitzer

Bar‐Am³

et al. 2000

Leukemia

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“…RT-PCR assays (standard and multiplex) for the CML t(9;22), t(1;19), t(4;11) and t(12;21) were established by using the leukemic cell lines K562, 38 697, 39 RS4;11 40 and REH, 41,42 respectively, and the leukemic cell line HL60 43 …”

Section: Cell Lines and Patient Samplesmentioning

confidence: 99%

A multiplex RT-PCR assay for the detection of chimeric transcripts encoded by the risk-stratifying translocations of pediatric acute lymphoblastic leukemia

et al. 1998

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Modern therapy for pediatric acute lymphoblastic leukemia (ALL) is based on the principle of risk stratification. One of the most important laboratory features used to accurately risk stratify patients is the presence of specific chromosomal translocation within the leukemic blasts. In this paper, we describe a multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) assay for the accurate, sensitive, and rapid identification of chimeric transcripts encoded by the major risk-stratifying translocations of pediatric ALL. This assay will identify both the CML-and ALL-type BCR-ABL transcripts encoded by the t(9;22), all described variants of the E2A-PBX1 transcripts encoded by the t (1;19), the MLL-AF4 transcripts encoded by the t(4;11), and all variants of TEL-AML1 encoded by the t(12;21). In addition, we have developed a reverse dot-blot detection system as an alternative to traditional post-PCR Southern blot analysis. Application of this combined assay to the analysis of 70 leukemic samples and five cell lines resulted in a complete concordance between this multiplex assay and individual PCR reactions. The characteristics of the multiplex assay suggest that its application to routine clinical screening will significantly improve the ability of clinical laboratories to accurate risk stratify pediatric ALL patients.

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“…13 The primers applied are outlined in Table 1. One microgram genomic DNA was diluted with PCR buffer (10 × 500 mM KCl, 15 mM MgCl 2 , 100 mM Tris-HCl pH 8.8, 0.8% Nonidet P40) containing 10 pmol of each upstream and downstream primer, 5 nmol of dNTP mix and 1.25 U of Taq DNA polymerase (Qiagen, Hilden, Germany) for the PCR reaction.…”

Section: Polymerase Chain Reaction (Pcr)mentioning

confidence: 99%

HHV-8 infection is specific for cell lines derived from primary effusion (body cavity-based) lymphomas

Uphoff

Carbone

Gaïdano³

et al. 1998

Leukemia

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Occurrence of TEL-AML1 fusion resulting from (12;21) translocation in human early B-lineage leukemia cell lines

Abstract: proteins thought to act as transcriptional activators. Also here

Cited by 76 publications

References 17 publications

Karyotypic dissection of Hodgkin's disease cell lines reveals ectopic subtelomeres and ribosomal DNA at sites of multiple jumping translocations and genomic amplification

Karyotypic dissection of Hodgkin's disease cell lines reveals ectopic subtelomeres and ribosomal DNA at sites of multiple jumping translocations and genomic amplification

A multiplex RT-PCR assay for the detection of chimeric transcripts encoded by the risk-stratifying translocations of pediatric acute lymphoblastic leukemia

HHV-8 infection is specific for cell lines derived from primary effusion (body cavity-based) lymphomas

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