t(7;14)(p13;q11)
2017-10-01 Adriana Zamecnikova Affiliation1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; [email protected]
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.
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).
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.
| Sex/Age | Diagnosis | Karyotype | |
| 6. | F | CML | 46,XX,t(7;14)(p13;q11),t(9;22)(q34;q11) |
| 7. | M/31 | CMD | 46,XY,t(7;14)(p13;q11),der(9)t(9;12)(q34;p13),del(12)(p13) ETV6/ABL1 |
| 4. | F/31 | T-ALL | 46,XX,t(7;14)(p13;q11),add(18)(q25) |
| 5. | M/23 | T-LGL | 46,XY,t(7;14)(p13;q11) |
| 1. | F/78 | CLL | 44,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. | F | ATCL | 46,XX,dup(7)(q11q35),t(7;14)(q35;q11),t(7;14)(p13;q11),add(14)(q11) LN |
| 3. | F | ATCL | 48,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.
Genes Involved and Proteins
Note
Therefore, it is probable, that various genes have been implicated in reported cases.
Gene name
TRA/TRD (T-cell receptor alpha/delta)
Location
14q11.2
Result of the Chromosomal Anomaly
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2918755 | 1989 | Chromosome abnormalities in B cell chronic lymphocytic leukemia and their clinical correlations. | Bird ML et al |
| 2284141 | 1990 | Rearrangements on chromosomes 7 and 14 with breakpoints at 7q35 and 14q11 in angioimmunoblastic lymphadenopathy and IBL-like T-cell lymphoma. | Cosimi MF et al |
| 15201999 | 2004 | 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 et al |
| 1377008 | 1992 | Karyotype and T-cell receptor expression in T-lineage acute lymphoblastic leukemia. | Secker-Walker LM et al |
| 12660039 | 2003 | Cytomegalovirus infection associated with clonal proliferation of T-cell large granular lymphocytes: causal or casual? | Wong KF et al |
| 24318592 | 2014 | Extramedullary T-lymphoid blast crisis of an ETV6/ABL1-positive myeloproliferative neoplasm with t(9;12)(q34;p13) and t(7;14)(p13;q11.2). | Yamamoto K et al |
Summary
Note
Cytogenetic appearance may resemble the chromosomal translocation t(7;14)(p15;q11) in suboptimal preparations.
Citation
Adriana Zamecnikova
t(7;14)(p13;q11)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/haematological/1803/chromosome-explorer/teaching-explorer/cookies-notice
