Ten novel 11q23 chromosomal partner sites

Harrison, Christine J.; Cuneo, Antonio; Clark, Roslyn; Johansson, Bertil; Lafage‐Pochitaloff, Marina; Mugneret, Francine; Moorman, AV; Secker-Walker, LM

doi:10.1038/sj.leu.2401017

Cited by 117 publications

(45 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…68,69 More than 54 different partner chromosome regions have now been identified, of which at least 37 partner genes are known (Table 4). 4,70 The t(4;11)(q21;q23) and t(11;19)(q23;p13.3) are the most common translocations in ALL, whereas t(6;11)(q27;q23), t(9;11)(p21-p22;q23), t(10;11)(p12;q23), and t(11;19)(q23;p13.1) are most frequent in AML. [71][72][73][74][75][76] The MLL gene is the human homologue of the Drosophila trithorax gene.…”

Section: Translocations Involving the Mll Gene (11q23)mentioning

confidence: 99%

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Burg

Poulsen²,

Hunger

et al. 2004

Leukemia

View full text Add to dashboard Cite

Chromosome aberrations are frequently observed in precursor-B-acute lymphoblastic leukemias (ALL) and T-cell acute lymphoblastic leukemias (T-ALL). These translocations can form leukemia-specific chimeric fusion proteins or they can deregulate expression of an (onco)gene, resulting in aberrant expression or overexpression. Detection of chromosome aberrations is an important tool for risk classification. We developed rapid and sensitive split-signal fluorescent in situ hybridization (FISH) assays for six of the most frequent chromosome aberrations in precursor-B-ALL and T-ALL. The split-signal FISH approach uses two differentially labeled probes, located in one gene at opposite sites of the breakpoint region. Probe sets were developed for the genes TCF3 (E2A) at 19p13, MLL at 11q23, ETV6 at 12p13, BCR at 22q11, SIL-TAL1 at 1q32 and TLX3 (HOX11L2) at 5q35. In normal karyotypes, two colocalized green/red signals are visible, but a translocation results in a split of one of the colocalized signals. Split-signal FISH has three main advantages over the classical fusionsignal FISH approach, which uses two labeled probes located in two genes. First, the detection of a chromosome aberration is independent of the involved partner gene. Second, split-signal FISH allows the identification of the partner gene or chromosome region if metaphase spreads are present, and finally it reduces false-positivity. Leukemia ( Chromosome aberrations play an important role in hematological malignancies. 1 In ALL, most of these aberrations concern balanced translocations involving genes that play key roles in the development and function of lymphoid cells, such as transcription factors, cell cycle regulators, and signal transduction molecules. Balanced translocations can result in fusion of two genes that encode leukemia-specific chimeric (fusion) proteins. The fusion proteins have functional features that differ from the corresponding wild-type proteins and mostly play a role in leukemogenesis. In addition to the new features of the fusion protein, loss of wild-type activity due to the translocation (in some translocations enhanced by deletion of the second allele) might contribute to oncogenesis. Alternatively, chromosome translocations can result in deregulated expression of (onco)genes as a direct consequence of a translocation to a regulatory element, for example, an immunoglobulin (Ig) or T-cell receptor (TCR) enhancer. 2,3 The most frequent translocations in precursor-B-ALL are t(1;19)(q23;p13) t(4;11)(q21;q23), t(12;21)(p13;q22), and t(9;22)(q34;q11), all four of which result in generation of fusion genes. The t(1;19)(q23;p13) fuses the transcription factorencoding gene TCF3 (E2A) with the transcription factor PBX1. In t(4;11)(q21;q23), the MLL gene at 11q23, which encodes a putative DNA-binding protein, is translocated to the MLLT2 (AF4) gene. The MLL gene is involved in many other translocations in ALL and acute myeloid leukemia (AML). Until now, more than 30 partner genes have been identified. 4 The t(12;21)(p13;q22) involves th...

show abstract

Section: Translocations Involving the Mll Gene (11q23)mentioning

confidence: 99%

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Burg

Poulsen²,

Hunger

et al. 2004

Leukemia

View full text Add to dashboard Cite

show abstract

“…[1][2][3][4] At least 40 different partner chromosomes have been involved in 11q23 translocations. [5][6][7][8][9][10][11][12] To date, 13 genes involved in translocations with MLL have been cloned. [13][14][15][16][17][18][19][20][21][22][23][24][25] It has been suggested that alteration of the MLL protein is the critical event in oncogenesis and that fusion partners may not play an important role in the oncogenic process.…”

Section: Introductionmentioning

confidence: 99%

Comparison of cytogenetics, Southern blotting, and fluorescence in situ hybridization as methods for detecting MLL gene rearrangements in children with acute leukemia and with 11q23 abnormalities

et al. 1999

View full text Add to dashboard Cite

“…We previously reported the case of a 48-year-old man with no previous history of toxic exposure, su ering from AML-M4, which was cytogenetically characterized as 46,XY,-3, t(11;15)(q23;q14), +mar (Archimbaud et al, 1998;Harrison et al, 1998). The bone marrow was hypercellular, with 80% blast cells.…”

mentioning

confidence: 99%

AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)

et al. 2000

View full text Add to dashboard Cite

Ten novel 11q23 chromosomal partner sites

Cited by 117 publications

References 52 publications

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Comparison of cytogenetics, Southern blotting, and fluorescence in situ hybridization as methods for detecting MLL gene rearrangements in children with acute leukemia and with 11q23 abnormalities

AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)

Contact Info

Product

Resources

About