Deregulated expression of theTAL1 gene by t(1;5)(p32;q31) in patient with T-cell acute lymphoblastic leukemia

François, Sylvie; Delabesse, Éric; Baranger, Laurence; Dautel, Marie; Foussard, Charles; Boasson, M; Blanchet, Odile; Bernard, Olivier A.; Macintyre, Elizabeth; Ifrah, Norbert

doi:10.1002/(sici)1098-2264(199809)23:1<36::aid-gcc6>3.0.co;2-7

Cited by 13 publications

(11 citation statements)

References 37 publications

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“…3,23,24 Its deregulation resulted from a cytogenetically undetectable interstitial deletion of chromosome 1. 25,26 Such discrete abnormalities might juxtapose Hox11L2 and potentially activate sequences, which may be numerous in band 5q32, in view of the large number of active genes in this genomic region. Ongoing molecular characterization of chromosomal breakpoints may pinpoint the mechanisms implicated in Hox11L2 expression.…”

Section: Discussionmentioning

confidence: 99%

High incidence of Hox11L2 expression in children with T-ALL

et al. 2002

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The orphan homeobox gene HOX11L2 was previously found to be transcriptionally activated as a result of the t(5;14)(q35;q32) translocation in three T-ALL cases. We now tested by RT-PCR Hox11L2 expression in 23 consecutive cases of T-ALL (15 children aged 0.8-14 years, eight adults aged 17-55 years) and as control 13 B-ALL patients from a single institution. Hox11L2 expression was undetectable in all patients with B-ALL, nor in adults with T-ALL. Nine children (60% of the cases), all boys, expressed Hox11L2. Blast cells from most of the latter patients carried surface CD1a, CD10 and not CD34 antigens, in contrast to the other children. FISH , M-FISH and IPM-FISH analysis failed to detect a t(5;14)(q35;q32) in one of them, which suggests a possible distinct genetic mechanism in Hox11L2 expression induction. Hence, Hox11L2 expression seems to be the most frequent abnormality in childhood T-ALL to date, comparable to the t(12;21) in child B-ALL.

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Section: Discussionmentioning

confidence: 99%

High incidence of Hox11L2 expression in children with T-ALL

et al. 2002

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“…Split-signal FISH for translocations in ALL M van der Burg et al been reported: t(1;7)(p32;p35) involving the TCRB locus, with a breakpoint 35 kb downstream of the TAL1 coding sequences; 7 t(1;3)(p32;p21) involving the TCTA gene; 5,127 and t(1;5)(p32;q31) in which the exact partner gene has not yet been identified. 8 Like in t (1;14), the breakpoints in t(1;3) and t(1;5) are located in the 5' untranslated region of the TAL1 gene. Although aberrations in the TAL1 gene are the most common defects in T-ALL, no clear correlation was found between TAL1 gene aberrations and clinical outcome in a large series of 182 children with newly diagnosed T-ALL.…”

Section: Figurementioning

confidence: 99%

“…Ectopic TAL1 gene expression can also be induced by translocations involving TAL1. [5][6][7][8][9] Recently, a new recurrent, but cryptic translocation t(5;14)(q35;q32) has been described in T-ALL. 10,11 In the majority of patients with this translocation, the breakpoint is located within or downstream of the RANBP17 gene at 5q35; the breakpoints at 14q32 are very heterogeneous.…”

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confidence: 99%

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

Burg

Poulsen²,

Hunger

et al. 2004

Leukemia

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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...

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“…In cases of leukemia, translocations of chromosome 1 band p32 (1p32) or a cryptic interstitial deletion at 1p32 are specifically associated with T lymphoblastic leukemia/lymphoma (T-ALL/LBL) [2,3]. Translocations with various partners such as 14q11, 7q35 or 3p21 occur in approximately 3% of T acute lymphoblastic leukemia (T-ALL) cases, but the t(1;5)(p32;q31) translocation has been reported only in two cases [3][4][5][6][7]. We present here an additional case of t(1;5)(p32;q31).…”

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A Novel Translocation t(1;5)(p32;q31) that Was Not Associated with the TAL1 Rearrangement in a Case of T Lymphoblastic Leukemia/Lymphoma

2009

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Recurrent chromosomal translocations are frequently associated with a diagnosis and prognosis of hematologic malignancies [1]. In cases of leukemia, translocations of chromosome 1 band p32 (1p32) or a cryptic interstitial deletion at 1p32 are specifically associated with T lymphoblastic leukemia/lymphoma (T-ALL/LBL) [2,3]. Translocations with various partners such as 14q11, 7q35 or 3p21 occur in approximately 3% of T acute lymphoblastic leukemia (T-ALL) cases, but the t(1;5)(p32;q31) translocation has been reported only in two cases [3][4][5][6][7]. We present here an additional case of t(1;5)(p32;q31). One of the previously reported cases had t(1;5)(p32;q31) as a secondary abnormality and immunophenotyping was not described; therefore, this is the second case of T-ALL with t(1;5)(p32;q31) as a primary cytogenetic abnormality. CASE REPORT Clinical featuresA 49-yr-old Korean male patient was admitted for evaluation of left side pleural effusion in February 2007. Computed tomography images showed multiple enlargement of

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Deregulated expression of theTAL1 gene by t(1;5)(p32;q31) in patient with T-cell acute lymphoblastic leukemia

Cited by 13 publications

References 37 publications

High incidence of Hox11L2 expression in children with T-ALL

High incidence of Hox11L2 expression in children with T-ALL

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

A Novel Translocation t(1;5)(p32;q31) that Was Not Associated with the TAL1 Rearrangement in a Case of T Lymphoblastic Leukemia/Lymphoma

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