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t(7;14)(p15;q11) TRD/HOXA10

Written2017-10Adriana Zamecnikova
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait;
This article is an update of :
2006-06Julie Bergeron, Elizabeth Macintyre , Vahid Asnafi
Laboratoire d'Hématologie, INSERM EMI0210, Hôpital Necker-Enfants Malades, Université Paris-Descartes, AP-HP, Paris, France

Abstract Review on t(7;14)(p15;q11) TRD/HOXA10, with data on clinics.

Keywords Chromosome 7; Chromosome 14; TRD ; HOXA10; T-cell lymphoblastic leukaemia

(Note : for Links provided by Atlas : click)


ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1435

Clinics and Pathology

Disease T-cell Acute lymphoblastic leukemia (T-ALL)
Phenotype / cell stem origin T lineage TCR gamma delta +, CD4/8 double positive (DP), CD1a- ; FAB L1 or L2. immunophenotype
Epidemiology 2 patients diagnosed with T-cell acute lymphoblastic leukemia: a 29-years old male (Asnafi et al., 2003) and a 9- years old male (Mahlow et al., 2015). In addition, 3 more cases with t(7;14)(p15;q11) have been described: a 51-years old male with mycosis fungoides/Sezary syndromeand TRA+ rearrangement (Santos et al., 1990), a 31-year old female with T-ALL (Garipidou et al., 1991) and a 46-years old female with refractory anemia with excess of blasts and rearranged HOXA9 (Chen et al., 2005) (Table 1).
Table 1. Reported cases with t(7;14)(p15;q11)
 Sex/AgeDiagnosisKaryotypeGenes involved
4F/46 RAEB 46,XX,t(7;14)(p15;q11),+8HOXA9/?
2F/31 T-ALL 46,XX,t(7;14)(p15;q11),add(18)(q23) ?
3M/29 T-ALL46,XY,t(7;14)(p15;q11),t(10;11)(p14;q21),add(18)(q23)HOXA-TRA/D
59/M T-ALL46,XY,del(6)(q14q21),t(7;14)(p15;q11.2),del(9)(p13)/92,idemx2 HOXA-TRA/D
1M/51Mycosis fungoides/ Sezary syndrome41-45,X,-Y,add(5)(q33),+7,t(7;14)(p15;q11),-8,-10,del(10)(p13), del(11)(q21q23),del(12)(p13),add(14)(q11),add(15)(q15),incTRA+, TRG+
1. Santos et al., 1990; 2. Garipidou et al., 1991; 3.Asnafi et al., 2003; 4. Chen et al., 2005; 5. Mahlow et al., 2015.Abbreviations: M: male; F: female; T-ALL: T-cell acute lymphoblastic leukemia, RAEB: refractory anemia with excess of blasts.


  Figure 1. FISH hybridization result using a TCRA/D distal (Green) and HOXA proximal (orange) FISH probes showing a fusion signal - Courtesy Julie Bergeron, Elizabeth Macintyre , Vahid Asnaf.
Cytogenetics Molecular Balanced t(7;14)
  • Der(7):Intronic region of HOXA locus on 7p15 between HOXA6 and HOXA7 genes fused with Jd1 segment of TCRD on 14q11.
  • Der(14): DREC segment on chromosome 14q11 rearranged with Dd2 and Dd3 segments and fused to the telomeric part of HOXA locus on 7p15
      Figure 2. (A) Partial karyotypes showing t(7;14)(p15.2;q11.2). (B) Fluorescence in situ hybridization with LSI TCRA/D break apart probe (Vysis, Abbott Moleculars, US) showing TCRA/D rearrangement as a result of t(7;14)(p15.2;q11.2) - Courtesy Adriana Zamecnikova.
    Additional anomalies The case described by Asnafi et al. 2003 also expressed (by RQ-PCR) a CALM-AF10 fusion transcript (t(10;11)(p13;q14-21)). Associated with 6q and 9pdeletion in the other T-ALL case with fusion of HOXA-TCRA/D gene regions (Mahlow et al., 2015).
    Variants variant translocation cases are reported: 9 cases of T-ALLs having the HOXA locus translocated to TCRB in a t(7;7). The breakpoints on 7p15 in those HOXA-TCRB cases are more centromeric, close to HOXA9

    Genes involved and Proteins

    Gene NameHOXA@
    Location 7p15
    Note HOXA6 and HOXA7 lie at 6,9kb from each other on 7p15
    Protein various HOXA genes act as transcription factors playing important roles in the differentiation and commitment processes of embryonic and hematopoietic cells.
    Gene NameTRD (T cell Receptor Delta)
    Location 14q11.2
    Note Breakpoint on der(7) lie 5' from Jd1. Breakpoint on der(14)lies 12 nucleotides 5' of the 3' end of the DREC segment.
    Protein Protein encoded by the TCRD locus are the T-cell receptor chains.

    Result of the chromosomal anomaly

    Hybrid gene
      Figure 3. Sequence of events leading to the final translocation. Exons are represented by boxes. Triangles represent RSS and show their orientation. E=enhancer- Courtesy Julie Bergeron, Elizabeth Macintyre , Vahid Asnaf..
    Fusion Protein
      Figure 4. The nucleotide sequence of both derivatives implicated in the t(7 ;14) translocation. Underscored are RSS or RSS-like sequence in the vincinity of the breakpoints. In lower case letters: non templated nucleotides at the junction- Courtesy Julie Bergeron, Elizabeth Macintyre , Vahid Asnaf..
    Description No fusion protein. Overexpression of HOXA genes as a result of the translocation with TCRD was expected, as it was demonstrated to be the case in HOXA-TCRB T-ALLs. However this case had a CALM-AF10 fusion in the same leukemic clone. CALM-AF10 is already known to be associated with HOXA cluster global overexpression. The HOXA pattern of expression in this case was similar to other CALM-AF10 T-ALL.
    Oncogenesis Probable, as several HOX/HOXA genes have been implicated in leukemic processes.

    To be noted

    Additional cases are needed to delineate the epidemiology of this rare entity:
    you are welcome to submit a paper to our new Case Report section.
    Case Report T-cell acute lymphoblastic leukemia with t(7;14)(p15;q11.2)/HOXA-TCRA/D and biallelic deletion of CDKN2A. Case report and literature review


    MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia
    Armstrong SA, Staunton JE, Silverman LB, Pieters R, den Boer ML, Minden MD, Sallan SE, Lander ES, Golub TR, Korsmeyer SJ
    Nat Genet 2002 Jan;30(1):41-7
    PMID 11731795
    Age-related phenotypic and oncogenic differences in T-cell acute lymphoblastic leukemias may reflect thymic atrophy
    Asnafi V, Beldjord K, Libura M, Villarese P, Millien C, Ballerini P, Kuhlein E, Lafage-Pochitaloff M, Delabesse E, Bernard O, Macintyre E
    Blood 2004 Dec 15;104(13):4173-80
    PMID 15054041
    CALM-AF10 is a common fusion transcript in T-ALL and is specific to the TCRgammadelta lineage
    Asnafi V, Radford-Weiss I, Dastugue N, Bayle C, Leboeuf D, Charrin C, Garand R, Lafage-Pochitaloff M, Delabesse E, Buzyn A, Troussard X, Macintyre E
    Blood 2003 Aug 1;102(3):1000-6
    PMID 12676784
    HOXA cluster deregulation in T-ALL associated with both a TCRD-HOXA and a CALM-AF10 chromosomal translocation
    Bergeron J, Clappier E, Cauwelier B, Dastugue N, Millien C, Delabesse E, Beldjord K, Speleman F, Soulier J, Macintyre E, Asnafi V
    Leukemia 2006 Jun;20(6):1184-7
    PMID 16572206
    Clinical and cytogenetic features of 508 Chinese patients with myelodysplastic syndrome and comparison with those in Western countries
    Chen B, Zhao WL, Jin J, Xue YQ, Cheng X, Chen XT, Cui J, Chen ZM, Cao Q, Yang G, Yao Y, Xia HL, Tong JH, Li JM, Chen J, Xiong SM, Shen ZX, Waxman S, Chen Z, Chen SJ
    Leukemia 2005 May;19(5):767-75
    PMID 15759035
    CALM-AF10+ T-ALL expression profiles are characterized by overexpression of HOXA and BMI1 oncogenes
    Dik WA, Brahim W, Braun C, Asnafi V, Dastugue N, Bernard OA, van Dongen JJ, Langerak AW, Macintyre EA, Delabesse E
    Leukemia 2005 Nov;19(11):1948-57
    PMID 16107895
    The use of fluorodeoxyuridine synchronization for cytogenetic investigation of acute lymphoblastic leukemia
    Garipidou V, Secker-Walker LM
    Cancer Genet Cytogenet 1991 Mar;52(1):107-11
    PMID 1826229
    T-cell acute lymphoblastic leukemia with t(7;14)(p15;q11.2)/HOXA-TCRA/D and biallelic deletion of CDKN2A. Case report and literature review.
    Mahlow J, Ebrahim S, Mohamed AN.
    V(D)J-mediated translocations in lymphoid neoplasms: a functional assessment of genomic instability by cryptic sites
    Marculescu R, Le T, Simon P, Jaeger U, Nadel B
    J Exp Med 2002 Jan 7;195(1):85-98
    PMID 11781368
    MLL targets SET domain methyltransferase activity to Hox gene promoters
    Milne TA, Briggs SD, Brock HW, Martin ME, Gibbs D, Allis CD, Hess JL
    Mol Cell 2002 Nov;10(5):1107-17
    PMID 12453418
    Possible correlation between a specific alteration t(7;14) and the rearrangement of TCR observed in a Sézary's syndrome
    Santos M, Benitez J, Rivas C
    Cancer Genet Cytogenet 1990 Jun;46(2):281-3
    PMID 2340497
    HOXA genes are included in genetic and biologic networks defining human acute T-cell leukemia (T-ALL)
    Soulier J, Clappier E, Cayuela JM, Regnault A, García-Peydró M, Dombret H, Baruchel A, Toribio ML, Sigaux F
    Blood 2005 Jul 1;106(1):274-86
    PMID 15774621
    A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias
    Speleman F, Cauwelier B, Dastugue N, Cools J, Verhasselt B, Poppe B, Van Roy N, Vandesompele J, Graux C, Uyttebroeck A, Boogaerts M, De Moerloose B, Benoit Y, Selleslag D, Billiet J, Robert A, Huguet F, Vandenberghe P, De Paepe A, Marynen P, Hagemeijer A
    Leukemia 2005 Mar;19(3):358-66
    PMID 15674412


    This paper should be referenced as such :
    Adriana Zamecnikova
    t(7;14)(p15;q11) TRD/HOXA10
    Atlas Genet Cytogenet Oncol Haematol. 2018;22(12):493-496.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :
    History of this paper:
    Bergeron, J ; Macintyre, E ; Asnafi, V. t(7;14)(p15;q11). Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):279-281.

    Translocations implicated (Data extracted from papers in the Atlas)

     t(7;14)(p15;q11) TRD/HOXA10

    External links

    Mitelman databaset(7;14)(p15;q11)
    arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
    REVIEW articlesautomatic search in PubMed
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