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 T-cell malignancies represent a heterogeneous group of diseases with characteristic clinical and genetic features. Chromosomal aberrations that involve the T-cell receptor (TCR) alpha/delta locus (TRA/TRD) at 14q11.2 are characteristic genomic aberrations of a variety of T-cell malignancies and affect a wide array of T-cell oncogenes.

Keywords T-cell lymphoblastic leukemia/lymphoma, t(7;14)(p13;q11), TRA/TRD, T- cell receptor genes.

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ICD-Topo C420,C421,C424
ICD-Morpho 9875/3
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9705/3 Angioimmunoblastic T-cell lymphoma
ICD-Morpho 9831/3 T-cell large granular lymphocytic leukaemia; Chronic lymphoproliferative disorder of NK cells
ICD-Morpho 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma
Atlas_Id 1803
Note Cytogenetic appearance may resemble the chromosomal translocation t(7;14)(p15;q11) in suboptimal preparations.

Clinics and Pathology

Disease T-cell malignancies mainly.
Note 7 patients (2 males and 5 females) aged 23 to 78 years (median 31 years) (from the known data).
Epidemiology T-cell malignancy in 5 out of 7 patients: 2 angioimmunoblastic T-cell lymphoma (AITL) (Cosimi et al., 1990), 1 T-cell acute lymphoblastic leukemia (T-ALL) (Secker-Walker et al., 1992) and 1 T-cell large granular lymphocytic leukemia (T-LGL) that presented initially as cytomegalovirus infection (Wong et al., 2003). Various malignancies in the remaining cases: 1 chronic lymphocytic leukemia (Bird et al., 1989), 1 chronic myeloid leukemia (CML) (Farag et al., 2004) and 1 patient with chronic myeloproliferative disorder (CMD) who developed extramedullary T-lymphoid blast crisis (Yamamoto et al., 2014) (Table 1).
7.M/31CMD 46,XY,t(7;14)(p13;q11),der(9)t(9;12)(q34;p13),del(12)(p13)        ETV6/ABL1
1.F/78CLL44,X,-X,add(1)(p36),add(4)(p16),del(6)(p23),add(7)(q32),i(8)(q10),-9,t(11;14) (q11;q23),del(17)(p11),del(18)(q21)/43,X,-X,add(1),add(4),del(6),add(7),t(7;14)(p13;q11),-8,-9,t(11;14)(q11;q32),del(17),del(18)
2.FATCL 46,XX,dup(7)(q11q35),t(7;14)(q35;q11),t(7;14)(p13;q11),add(14)(q11)        LN
3.FATCL48,XX,+3,+7,t(7;14)(q35;q11),t(7;14)(p13;q11),t(14;14)(q11;q32)        LN

1. Bird et al., 1989; 2-3. Cosimi et al., 1990; 4. Secker-Walker et al., 1992; 5. Wong et al., 2003; 6. Farag et al., 2004; 7. Yamamoto et al., 2014.
Abbreviations: M, male, F, female; CML., Chronic myeloid leukemia; CMD., Chronic myeloproliferative disorder; T-ALL, T-cell Acute lymphoblastic leukemia/lymphoblastic lymphoma; T-LGL., T-cell large granular lymphocytic leukemia; CLL, Chronic lymphocytic leukemia; ATCL, Angioimmunoblastic T-cell lymphoma; LN, lymph node.


Cytogenetics Morphological Sole anomaly in the T-LGL case (Wong et al., 2003), associated with t(7;14)(q35;q11) and additional 14q11 anomalies in both AITL patients (Cosimi et al., 1990). Found with t(9;22)(q34;q11) in a CML (Farag et al., 2004), der(9) t(9;12)(q34;p13),del(12)(p13) in an ETV6/ ABL1-positive CMD (Yamamoto et al., 2014) and with t(11;14)(q11;q32) and complex karyotype in a CLL case (Bird et al., 1989).

Genes involved and Proteins

Note Therefore, it is probable, that various genes have been implicated in reported cases.
Gene NameTRA/TRD (T-cell receptor alpha/delta)
Location 14q11.2

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Translocations involving 14q11, the chromosomal band to which TRA and TRD have been mapped often result in rearrangement of TCR genes in T-cell leukemias/lymphomas. In most instances, these chromosomal aberrations induce the transcription of an oncogene on the partner chromosome as a result of juxtaposition of promoter and enhancer elements of TCR genes to the putative oncogene. The mechanism is not clear, but deregulated expression of a partner gene may activate a mechanism for the genesis of T-cell leukemia/lymphoma.

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.


Chromosome abnormalities in B cell chronic lymphocytic leukemia and their clinical correlations
Bird ML, Ueshima Y, Rowley JD, Haren JM, Vardiman JW
Leukemia 1989 Mar;3(3):182-91
PMID 2918755
Rearrangements on chromosomes 7 and 14 with breakpoints at 7q35 and 14q11 in angioimmunoblastic lymphadenopathy and IBL-like T-cell lymphoma
Cosimi MF, Casagranda I, Ghiazza G, Rossi G, Galvani P
Pathologica 1990 Jul-Aug;82(1080):391-7
PMID 2284141
Prognostic significance of additional cytogenetic abnormalities in newly diagnosed patients with Philadelphia chromosome-positive chronic myelogenous leukemia treated with interferon-alpha: a Cancer and Leukemia Group B study
Farag SS, Ruppert AS, Mrózek K, Carroll AJ, Pettenati MJ, Le Beau MM, Peterson BL, Powell BL, Ozer H, Silver RT, Larson RA, Bloomfield CD; Cancer and Leukemia Group B study
Int J Oncol 2004 Jul;25(1):143-51
PMID 15201999
Karyotype and T-cell receptor expression in T-lineage acute lymphoblastic leukemia
Secker-Walker LM, Campana D, Hawkins JM, Sampson RE, Coustan-Smith E
Genes Chromosomes Cancer 1992 Jan;4(1):41-5
PMID 1377008
Cytomegalovirus infection associated with clonal proliferation of T-cell large granular lymphocytes: causal or casual? Cancer Genet Cytogenet
Wong KF, Yip SF, So CC, Lau GT, Yeung YM
2003 Apr 1;142(1):77-9
PMID 12660039
Extramedullary T-lymphoid blast crisis of an ETV6/ABL1-positive myeloproliferative neoplasm with t(9;12)(q34;p13) and t(7;14)(p13;q11
Yamamoto K, Yakushijin K, Nakamachi Y, Miyata Y, Sanada Y, Tanaka Y, Okamura A, Kawano S, Hayashi Y, Matsuoka H, Minami H
2) Ann Hematol
PMID 24318592


This paper should be referenced as such :
Adriana Zamecnikova
Atlas Genet Cytogenet Oncol Haematol. 2018;22(12):491-492.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(7;14)(p13;q11)
arrayMap (UZH-SIB Zurich)Morph ( 9875/3) -   [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 ( 9705/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9831/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9823/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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