Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(5;9)(q33;q22)
| Identity |
 | |
| t(5;9)(q33;q22) G-banding | |
| Clinics and Pathology |
| Disease | ITK-SYK transcripts were detected in 5 of 30 (17%) unspecified peripheral T-cell lymphomas, but not in cases of angioimmunoblastic T-cell lymphoma (n=9) and ALK-negative anaplastic large cell lymphoma (n=7). |
| Phenotype / cell stem origin | The majority of t(5;9)(q33;q22)+ unspecified peripheral T-cell lymphomas share a very similar histological pattern with predominant involvement of lymphoid follicles and the same CD3+CD5+CD4+bcl-6+CD10+ immunophenotype. |
| Cytogenetics |
 | |
| Colocalized fusion signals on the der(5) and der(9) confirm ITK-SYK rearrangement | |
| Probes | RP11-563G12 and RP11-1091N2 dual color, break apart rearrangement probe for ITK, RP11-31B18 and RP11-47O12 dual color, break apart rearrangement probe for SYK, and RP11-956N15 and CTB4E7 dual color, dual fusion rearrangement probe for ITK-SYK rearrangement |
| Genes involved and Proteins |
| Gene Name | ITK |
| Location | 5q33 |
| Dna / Rna | centromere to telomere orientation; Exons: 17 |
| Protein | The Tec family tyrosine kinase Itk has become increasingly recognized for its important role in regulating T-helper-cell differentiation. ITK is not required for Th2 differentiation per se, but effector Th2 cytokine production during recall responses is severely impaired in the absence of ITK. |
| Gene Name | SYK |
| Location | 9q22 |
| Dna / Rna | centromere to telomere orientation; Exons: 13-14 (alternative spliced) |
| Protein | SYK is a nonreceptor protein kinase that serves as a key regulator of multiple biochemical signal transduction events and has high homology to ZAP70 protein tyrosine kinase. In contrast to ITK, a translocation of SYK has been observed in hematopoietic neoplasia. Syk is expressed in a wide variety of hematopoietic cells but only in low levels in peripheral T-cells. Treatment of human Jurkat T-cells with the proapoptotic and inflammatory cytokine TNF activates SYK which consequently plays an essential role in TNF-induced activation of JNK, p38 MAPK, p44/p42 MAPK, NF- B, and apoptosis. |
| Result of the chromosomal anomaly |
| Description | 5'ITK-3'SYK |
| Transcript | N-terminal ITK (bp 1-577) fused in frame with C-terminal SYK cDNA (breakpoint bp 1063) |
 | |
| In frame fusion of N-terminal ITK to C-terminal SYK. The individual domains of Itk are indicated PH (pleckstrin homology), TH (proline-rich Tec homology), SH3 (Src homology), SH2 (Src homology), TK (tyrosine kinase) and of SYK N-terminal and C-terminal SH2 (Src homology), and TK (tyrosine kinase). | |
| External links |
| Other database | t(5;9)(q33;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;9)(q33;q22) | CancerChromosomes (NCBI) |
| 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. |
| Bibliography |
| Differential expression of ZAP-70 and Syk protein tyrosine kinases, and the role of this family of protein tyrosine kinases in TCR signaling. |
| Chan AC, van Oers NS, Tran A, Turka L, Law CL, Ryan JC, Clark EA, Weiss A |
| Journal of immunology (Baltimore, Md. : 1950). 1994 ; 152 (10) : 4758-4766. |
| PMID 8176201 |
| Altered T cell receptor signaling and disrupted T cell development in mice lacking Itk. |
| Liao XC, Littman DR |
| Immunity. 1995 ; 3 (6) : 757-769. |
| PMID 8777721 |
| Leukocyte protein tyrosine kinases: potential targets for drug discovery. |
| Bolen JB, Brugge JS |
| Annual review of immunology. 1997 ; 15 : 371-404. |
| PMID 9143693 |
| T cell receptor-initiated calcium release is uncoupled from capacitative calcium entry in Itk-deficient T cells. |
| Liu KQ, Bunnell SC, Gurniak CB, Berg LJ |
| The Journal of experimental medicine. 1998 ; 187 (10) : 1721-1727. |
| PMID 9584150 |
| Requirement for Tec kinases Rlk and Itk in T cell receptor signaling and immunity. |
| Schaeffer EM, Debnath J, Yap G, McVicar D, Liao XC, Littman DR, Sher A, Varmus HE, Lenardo MJ, Schwartzberg PL |
| Science (New York, N.Y.). 1999 ; 284 (5414) : 638-641. |
| PMID 10213685 |
| Constitutive kinase activation of the TEL-Syk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12). |
| Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M, Tanimoto M, Saito H |
| Blood. 2001 ; 97 (4) : 1050-1055. |
| PMID 11159536 |
| TNF activates Syk protein tyrosine kinase leading to TNF-induced MAPK activation, NF-kappaB activation, and apoptosis. |
| Takada Y, Aggarwal BB |
| Journal of immunology (Baltimore, Md. : 1950). 2004 ; 173 (2) : 1066-1077. |
| PMID 15240695 |
| Novel t(5;9)(q33;q22) fuses ITK to SYK in unspecified peripheral T-cell lymphoma. |
| Streubel B, Vinatzer U, Willheim M, Raderer M, Chott A |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (2) : 313-318. |
| PMID 16341044 |
| Contributor(s) |
| Written | 05-2007 | Berthold Streubel |
| Department of Pathology, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria |
| Citation |
| This paper should be referenced as such : |
| Berthold Streubel B . t(5;9)(q33;q22). Atlas Genet Cytogenet Oncol Haematol. May 2007 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0509q33q22ID1458.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:21 2008 |
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