Deregulation of cyclin D2 by juxtaposition with T‐cell receptor alpha/delta locus in t(12;14)(p13;q11)‐positive childhood T‐cell acute lymphoblastic leukemia

Karrman, Kristina; Andersson, Anna; Björgvinsdóttir, Helga; Strömbeck, Bodil; Lassen, Carin; Olofsson, Tor; Nguyen‐Khac, Florence; Berger, Roland; Bernard, Olivier A.; Fioretos, Thoas; Johansson, Bertil

doi:10.1111/j.0902-4441.2006.t01-1-ejh2553.x

Cited by 21 publications

(11 citation statements)

References 26 publications

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“…From a molecular perspective, Xq22 and 12p13 were juxtaposed with the TCR α/δ loci (14q11). Breakpoints within the TCR α/δ locus occur in more than 20% of T-ALL cases with abnormal karyotypes, and the mechanism underlying these translocations most likely involves illegitimate V(D)J recombination [4, 12, 13]. …”

Section: Discussionmentioning

confidence: 99%

“…T-ALL is a genetically heterogeneous disease with translocations that usually involve recombination between T-cell receptor ( TCR ) loci and several different partner genes [3]. Most of these translocations result in deregulation of the partner genes that are located near TCR regulatory elements [4]. The most common partner genes are HOX11 , HOX11L2 , MYC , and TAL1 .…”

Section: Introductionmentioning

confidence: 99%

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Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

et al. 2012

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The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1. In this report, we present a rare case involving simultaneous translocation of the TCR α/δ loci with different partner loci (Xq22 and 12p13); this resulted in a poor prognosis. Chromosomal analysis showed 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2) and FISH analysis by using a T-cell receptor alpha delta DNA probe, Split Signal (DakoCytomation, Denmark), showed translocations at the same TCR α/δ locus on both chromosomes. FISH with 2 bacterial artificial chromosome clones showed break apart signal, which suggests involvement of the IRS4 gene. To our knowledge, this is the first report of T-ALL in which both TCR α/δ loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

et al. 2012

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“…Loss of 9p material was seen in close to 20% of the cytogenetically abnormal CNS, central nervous system; F, female; M, male; pEFS, probability of event-free survival (5 years); pOS, probability of overall survival (5 years); WBC, white blood cell. (Karrman et al, 2006) CNS, central nervous system; F, female; M, male; WBC, white blood cell; þ, alive at last follow-up. cases (Table 3).…”

Section: Discussionmentioning

confidence: 99%

Clinical and cytogenetic features of a population‐based consecutive series of 285 pediatric T‐cell acute lymphoblastic leukemias: Rare T‐cell receptor gene rearrangements are associated with poor outcome

Karrman

Forestier

Heyman

et al. 2009

Genes Chromosomes & Cancer

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Clinical characteristics and cytogenetic aberrations were ascertained and reviewed in a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias (T-ALLs) diagnosed between 1992 and 2006 in the Nordic countries. Informative karyotypic results were obtained in 249 (87%) cases, of which 119 (48%) were cytogenetically abnormal. Most (62%) of the aberrant T-ALLs were pseudodiploid. Structural changes were more common than numerical ones; 86% displayed at least one structural abnormality and 41% at least one numerical anomaly. The most frequent abnormalities were T-cell receptor (TCR) gene rearrangements (20%) [TCR;11p13 (10%), TCR;10q24 (3%), TCR;other (8%)], del(9p) (17%), +8 (14%), del(6q) (12%), and 11q23 rearrangements (6%). The TCR;other group comprised the rare rearrangements t(X;14)(p11;q11), t(X;7)(q22;q34), t(1;14)(p32;q11), ins(14;5)(q11;q?q?), inv(7)(p15q34), t(8;14)(q24;q11), t(7;11)(q34;p15), and t(12;14)(p13;q11). The clinical characteristics of this Nordic patient cohort agreed well with previous larger series, with a median age of 9.0 years, male predominance (male/female ratio 3.1), median white blood cell (WBC) count of 66.5 x 10(9)/l, and a high incidence of mediastinal mass and central nervous system involvement (59% and 9.5%, respectively). These features did not differ significantly among the various genetic subgroups. 5-year event-free survival (EFS) and overall survival for all patients were 0.61 (+/-0.03) and 0.67 (+/-0.03), respectively. In a multivariate analysis, two factors affected negatively the EFS, namely a WBC count of > or =200 x 10(9)/l (P < 0.001) and the presence of rare TCR rearrangements (P = 0.001). In conclusion, in this large series of childhood T-ALLs from the Nordic countries, the cytogenetic findings were not associated with risk of therapy failure with the exception of the TCR;other group. However, further prospective and collaborative investigations of this genetically heterogeneous entity are needed to confirm these results.

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“…Specifically, five cases had breaks at 8p21 and four cases had breaks at 12p13 (Table SI: cases 47, 62, 68, 69, 74, 77, 78, 79 and 90). Various genes localized to band 12p13 have been associated with rearrangements in T-cell malignancies, including ETV6 in PTCL (Yagasaki et al, 2001) and CCND2 with over-expression in T-cell acute lymphoblastic leukemia (ALL) (Karrman et al, 2006). High level amplifications of 12p13 have also been detected by CGH in three PTCL-US cases (Zettl et al, 2004) and a recent study using a cDNA microarray reported a PTCL-US subgroup with a gene expression signature including over-expression of CCND2 (Ballester et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities and clinical correlations in peripheral T‐cell lymphoma

et al. 2008

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SummaryCytogenetic correlations among most types of peripheral T-cell lymphoma (PTCL) have not been very informative to date. This study aimed to identify recurrent chromosomal abnormalities in angioimmunoblastic T-cell lymphoma (AITL), ALK-negative anaplastic large cell lymphoma (ALK-ALCL) and peripheral T-cell lymphoma, unspecified (PTCL-US), and to evaluate their prognostic value. We reviewed the cytogenetic findings of 90 previously-diagnosed cases of PTCL and correlated the cytogenetic findings with the specific histological subtype. The most common abnormalities for AITL were 5q (55%), 21 (41%) and 3q (36%) gains, concurrent trisomies of 5 and 21 (41%), and loss of 6q (23%). In ALK(-) ALCL, gains of 1q (50%) and 3p (30%), and losses of 16pter (50%), 6q13q21 (30%), 15 (30%), 16qter (30%) and 17p13 (30%) were frequent findings. In PTCL-US, frequent gains involved 7q22q31 (33%), 1q (24%), 3p (20%), 5p (20%), and 8q24qter (22%), and losses of 6q22q24 (26%) and 10p13pter (26%). We did not observe any association between specific chromosomal abnormalities and overall survival (OS). However, cases with complex karyotypes, most frequently observed in ALK(-) ALCL and PTCL-US, had a significantly shorter OS. Although, genetic differences were noted in these subtypes, further studies are needed to determine the key pathogenetic events in PTCL.

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Deregulation of cyclin D2 by juxtaposition with T‐cell receptor alpha/delta locus in t(12;14)(p13;q11)‐positive childhood T‐cell acute lymphoblastic leukemia

Cited by 21 publications

References 26 publications

Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

Clinical and cytogenetic features of a population‐based consecutive series of 285 pediatric T‐cell acute lymphoblastic leukemias: Rare T‐cell receptor gene rearrangements are associated with poor outcome

Cytogenetic abnormalities and clinical correlations in peripheral T‐cell lymphoma

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