Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written2017-10Adriana Zamecnikova
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait;

Abstract Rearrangements of T-cell receptor (TCR) genes are characteristic chromosomal abnormalities in a variety of T-cell malignancies, particularly in T-cell lymphoblastic leukemia/lymphomas, but TCR-gamma gene or TCL1A (TCR-T-cell leukemia/lymphoma 1A) rearrangements are rare.

Keywords T-cell lymphoblastic leukemia/lymphoma; t(7;14)(p15;q32); TCL1A; T- cell receptor genes.

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ICD-Topo C420,C421,C424
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9808/3 Mixed phenotype acute leukaemia, B/myeloid, NOS 152
ICD-Morpho 9867/3 Acute myelomonocytic leukaemia
Atlas_Id 1059

Clinics and Pathology

Disease T-cell acute lymphoblastic leukemia/lymphoblastic lymphoma (T-ALL); rarely: acute myeloid leukemia (AML).
Phenotype / cell stem origin An immature thymocytic pattern: CD7-positive, surface CD3-negative and CD4/CD8- negative.
Etiology T-cell acute lymphoblastic leukemia/lymphoblastic lymphoma in 11 (Kaneko et al., 1989; Teramura et al., 1989; Pui et al., 1991; Toyoda et al., 1991; Heerema et al., 1998; Chang et al., 2006; Gill et al., 2011; Sugimoto et al., 2014), among them 1 with human immunodeficiency virus infection (Gill et al., 2011). Additional cases included: 1 mature T- and NK-cell neoplasm (Narayan et al., 2013), 2 AML (Raimondi et al., 1989; Strehl et al., 2001) and 1 biphenotypic leukemia ( BAL) (Xu et al., 2009).
Epidemiology 15 patients (9 males and 6 females) aged 4 to 55 years (median 14 years); mainly pediatric cases (12 out of 15 patients; aged 4 to 16 years).
Table 1. Clinical findings of patients with t(7;14)(p15;q32).
3. FAML-M246,XX,t(7;14)(p15;q32)
10. M/16AML-M446,XY,t(7;14)(p15;q32)
12. M/35BAL 46,XY,add(5)(q13),t(6;16)(q15;q24),t(7;14)(p15;q32)/92,idemx2
1. M/12T-ALL  46,XY,-6,t(7;14)(p15;q32),del(8)(q22),del(12)(p12),-13,-16,-18,+4mar
2. F/10T-ALL  46,XX,t(6;12)(q21;p13),t(7;14)(p15;q32)
5. F/4T-ALL45,XX,t(1;2)(p22;p14),t(7;14)(p15;q32),dic(12;18)(p11;p11)
6. M/14T-ALL 46, XX,t(7;14)(p15;q32)
8. MT-ALL46,XY,?inv(5)(p13q14),del(6)(p21-22),t(7;14)(p15;q32)
9. FT-ALL46,XX,del(5)(q31),del(6)(q15q23),t(7;14)(p15;q32)
11. F/7T-ALL46,XX,del(5),t(7;14)(p15;q32)/45,idem,-8,der(12)t(8;12)(q11;p11), inv(17)(p13q11)
13. M/55T-ALL46,XY,t(7;14)(p15;q32)        human immunodeficiency virus infection
15. M/22T-ALL46,XY,t(7;14)(p15;q32)        TRG/TCL1A
4. M/14T-cell lymphomat(7;14)(p15;q32)
7. M/9T-cell lymphoma46,XY,t(7;14)(p15;q32)
14. F/15MT/NKN46,XX,t(7;14)(p15;q32)/92,idemx2 

Abbreviations: AML-M2, Acute myeloblastic leukemia with maturation; AML-M4, Acute myelomonocytic leukemia; BAL, Bilineage or biphenotypic leukemia; T-ALL, T-Acute lymphoblastic leukemia/lymphoblastic lymphoma; MT/NKN, Mature T- and NK-cell neoplasm.
1-2. Kaneko et al., 1989; 3. Raimondi et al., 1989; 4. Teramura et al., 1989; 5-6. Pui et al., 1991; 7. Toyoda et al., 1991; 8-9. Heerema et al., 1998; 10.Strehl et al., 2001; 11. Chang et al., 2006; 12. Xu et al., 2009; 13. Gill et al., 2011; 14. Narayan et al., 2013; 15. Sugimoto et al., 2014.
Prognosis 6 of the described patients achieved clinical remission after therapy and had a favorable outcome with survival of 1 to 24+ months (Data from Sugimoto et al., 2014).


Note Because precise breakpoints are often difficult to define, it is possible that the reported t(7;14)(p15;q32) involve various 7p14-7p15.1-p15.3 breakpoints and dispersion of breakpoints throughout the 14q32.1-32.3 region involving various genes.
Cytogenetics Morphological Sole anomaly in 6 T-Acute lymphoblastic leukemia/lymphoblastic lymphoma (Teramura et al., 1989; Pui et al., 1991; Toyoda et al., 1991; Gill et al., 2011; Narayan et al., 2013; Sugimoto et al., 2014) and in both AML patients (Raimondi et al., 1989; Strehl et al., 2001); found in association with 5q deletion in 1 (Heerema et al., 1998) and 12p anomalies in 4 (Kaneko et al., 1989; Pui et al., 1991; Chang et al., 2006).

Genes involved and Proteins

Gene NameTRG (T-cell receptor gamma)
Location 7p14.1
Note Belongs to the family of T-cell receptor genes encoding T-cell receptor gamma chains, previously often described as located at band 7p14-p15. Note that the breakpoint has been described at 7p15 in a case with TRG+ (Sugimoto et al., 2014).
Gene NameHOXA@ (homeo box A cluster)
Location 7p15.2
Protein HOXA cluster genes at 7p15 act as transcription factors regulating gene expression, morphogenesis, and differentiation. Chromosomal disruption of HOXA genes by chromosomal rearrangements such as inv(7)(p15q34) or t(7;7)(p15;q34) that involve TRB at 7q34 and t(7;14)(p15;q11) that disrupt TRD at 14q11 results in HOXA upregulation and ectopic expression in T-cell acute lymphoblastic leukemia/lymphoma, indicating important role for HOXA genes in T-ALL.
Gene NameTCL1A (T-cell leukemia/lymphoma 1A)
Location 14q32.1
Protein TCL1A located on 14q32.1 and TCL1B located centromeric of TCL1A belong to the TCL1 family of genes known to be affected by chromosomal rearrangements in T-cell leukemia/lymphoma. TCL1 is a target of chromosomal translocations t(14;14)(q11;q32.1) or t(7;14)(q35;q32.1) and inversions inv(14)(q11q32.1) involving the T- cell receptor alpha /delta locus at 14q11 and TCR beta loci at 14q35 leading to its deregulation in T-cell leukemias, such as T-prolymphocytic leukemia. It is also activated in preleukemic clonal cells and chronic leukemias arising in cases of immunodeficiency syndromes such as ataxia-telangiectasia as a consequence of chromosome translocation involving TRA/TRD locus. TCL1 functions as a coactivator in a PI3-kinase dependent Akt pro-survival pathway.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The chromosomal translocation t(7;14)(p15;q32) is associated with T-cell acute leukemia/lymphoma mainly, indicating the abnormality may involve genes casually implicated in the development of these types of malignancies. Found often as a sole anomaly or in association with limited additional rearrangements in the majority of reported patients, thus probably involved in the initiation of malignancy. The fusion of TCL1A/TCL1B and TRG genes was confirmed by FISH in 1 patient (Sugimoto et al., 2014), indicating that activation of TCL1 by its juxtaposition to regulatory elements of T-cell receptor gene leading to TCL1 overexpression is involved in leukemogenesis. However, in the remaining patients the genes involved are unknown and probable various genes have been implicated. It is possible that in some patients, the abnormality may involve other genes such as HOXA genes identified in 7p15 region and TCL1B (TML1) and TCL6 (TNG1, or TNG2) that are overexpressed in T-cell leukemias with 14q32.1 rearrangements.


Cytogenetics in childhood acute lymphoblastic leukemia in Taiwan: a single-institutional experience
Chang HH, Lu MY, Jou ST, Lin KH, Tien HF, Lin DT
Pediatr Hematol Oncol 2006 Sep;23(6):495-506
PMID 16849281
T lymphoblastic leukemia/lymphoma and human immunodeficiency virus infection.
Gill KZ, Hussein S, Jia Y, Murty VV, Bhagat G, Alobeid B.
J Hematopathol 2011;4:233–235.
Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group
Heerema NA, Sather HN, Sensel MG, Kraft P, Nachman JB, Steinherz PG, Lange BJ, Hutchinson RS, Reaman GH, Trigg ME, Arthur DC, Gaynon PS, Uckun FM
J Clin Oncol 1998 Apr;16(4):1270-8
PMID 9552025
Chromosomal and immunophenotypic patterns in T cell acute lymphoblastic leukemia (T ALL) and lymphoblastic lymphoma (LBL)
Kaneko Y, Frizzera G, Shikano T, Kobayashi H, Maseki N, Sakurai M
Leukemia 1989 Dec;3(12):886-92
PMID 2586183
PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis
Narayan G, Xie D, Freddy AJ, Ishdorj G, Do C, Satwani P, Liyanage H, Clark L, Kisselev S, Nandula SV, Scotto L, Alobeid B, Savage D, Tycko B, O'Connor OA, Bhagat G, Murty VV
Genes Chromosomes Cancer 2013 Nov;52(11):1030-41
PMID 23929756
Characterization of childhood acute leukemia with multiple myeloid and lymphoid markers at diagnosis and at relapse
Pui CH, Raimondi SC, Head DR, Schell MJ, Rivera GK, Mirro J Jr, Crist WM, Behm FG
Blood 1991 Sep 1;78(5):1327-37
PMID 1878594
Cytogenetics of childhood acute nonlymphocytic leukemia
Raimondi SC, Kalwinsky DK, Hayashi Y, Behm FG, Mirro J Jr, Williams DL
Cancer Genet Cytogenet 1989 Jul 1;40(1):13-27
PMID 2758395
Multiplex reverse transcriptase-polymerase chain reaction screening in childhood acute myeloblastic leukemia
Strehl S, König M, Mann G, Haas OA
Blood 2001 Feb 1;97(3):805-8
PMID 11157501
T-cell lymphoblastic leukemia/lymphoma with t(7;14)(p15;q32) [TCRγ-TCL1A translocation]: a case report and a review of the literature
Sugimoto KJ, Shimada A, Wakabayashi M, Sekiguchi Y, Izumi H, Ota Y, Komatsu N, Noguchi M
Int J Clin Exp Pathol 2014 Apr 15;7(5):2615-23
PMID 24966976
A case of Lymphoma with t(7;14)(p15;q32).
Teramura M, Yokota J, Motoji T, Oshimi K, Mizoguchi H.
Immunopharmacology & Therapy 1989;7:455–458.
[CD5+, CD7+, and CD19+ non-Hodgkin's lymphoma in a child]
Toyoda Y, Horikoshi Y, Tonouchi T, Mimaya J, Hamazaki M, Taniguchi S, Kawai S, Kawa-ha K, Yumura K, Kaneko Y
Rinsho Ketsueki 1991 Feb;32(2):137-41
PMID 1709216
Clinical and biological characteristics of adult biphenotypic acute leukemia in comparison with that of acute myeloid leukemia and acute lymphoblastic leukemia: a case series of a Chinese population
Xu XQ, Wang JM, Lü SQ, Chen L, Yang JM, Zhang WP, Song XM, Hou J, Ni X, Qiu HY
Haematologica 2009 Jul;94(7):919-27
PMID 19454497


This paper should be referenced as such :
Zamecnikova A
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(7;14)(p15;q32) TCL1A/HOX1@
 t(7;14)(p15;q32) TCL1A/TRG

External links

Mitelman databaset(7;14)(p15;q32) [Case List]    t(7;14)(p15;q32) [Transloc-MCList] TCL1A/HOX1@ [Fusion-MCList]
Mitelman databaset(7;14)(p15;q32) [Case List]    t(7;14)(p15;q32) [Transloc-MCList] TCL1A/TRG [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9808/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9867/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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