| Clinics and Pathology |
| Disease | described in only 6 cases; acute lymphoblastic leukemia (ALL), acute non lymphocytic leukemia (ANLL) and chronic myeloid leukemia (CML) |
| Prognosis | numbers small, but one CML case had allogeneic BMT and is in complete remission, the remaining cases had rapid disease progression and died of shortly after diagnosis |
| Cytogenetics |
| Cytogenetics Morphological | t(9;12)(q34;p13), cryptic at the cytogenetic level |
| Variants | t(9;12;14)(q34;p13;q22) and complex insertions of ETV6 into ABL |
| Genes involved and Proteins |
| Gene Name | ABL |
| Location | 9q34 |
| Dna / Rna | ETV6 is fused to exon 2 of ABL in the three cases described |
| Protein | tyrosine kinase, localized primarily to the nucleus |
| Gene Name | ETV6 |
| Location | 12p13 |
| Dna / Rna | 9 exons; alternate splicing |
| Protein | contains Helix-Loop-Helix (HLH) at N-terminal end and ETS DNA binding domain at C-terminal end; wide expression; nuclear localization; ETS- related transcription factor |
| Result of the chromosomal anomaly |
| Description | 5 ETV6 - 3 ABL; two different fusion breakpoints have been described; ETV6 exon 4 fused in frame to ABL exon 2 (Type A) and ETV6 exon 5 fused in frame to ABL exon 2 (Type B); ETV6 maintains the HLH domain and ABL the tyrosine kinase domain |
| Description | a 155 kDa protein in Type A, 180 kDa protein in Type B; has elevated tyrosine kinase activity, localized in the cytoplasm and co-localizes with the actin filaments of the cells |
| Oncogenesis | |
| External links |
| Other database | t(9;12)(q34;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(9;12)(q34;p13) | 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 |
| The novel activation of ABL by fusion to an ets-related gene, TEL. |
| Papadopoulos P, Ridge SA, Boucher CA, Stocking C, Wiedemann LM |
| Cancer research. 1995 ; 55 (1) : 34-38. |
| PMID 7805037 |
| Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. |
| Golub TR, Goga A, Barker GF, Afar DE, McLaughlin J, Bohlander SK, Rowley JD, Witte ON, Gilliland DG |
| Molecular and cellular biology. 1996 ; 16 (8) : 4107-4116. |
| PMID 8754809 |
| BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. |
| Andreasson P, Johansson B, Carlsson M, Jarlsfelt I, Fioretos T, Mitelman F, Hglund M |
| Genes, chromosomes & cancer. 1997 ; 20 (3) : 299-304. |
| PMID 9365838 |
| Haemopoietic transformation by the TEL/ABL oncogene. |
| Hannemann JR, McManus DM, Kabarowski JH, Wiedemann LM |
| British journal of haematology. 1998 ; 102 (2) : 475-485. |
| PMID 9695962 |
| Bcr/Abl activates transcription of the Bcl-X gene through STAT5. |
| Gesbert F, Griffin JD |
| Blood. 2000 ; 96 (6) : 2269-2276. |
| PMID 10979976 |
| Bcr/Abl activates transcription of the Bcl-X gene through STAT5. |
| Gesbert F, Griffin JD |
| Blood. 2000 ; 96 (6) : 2269-2276. |
| PMID 10979976 |
| Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia. |
| Van Limbergen H, Beverloo HB, van Drunen E, Janssens A, Hhlen K, Poppe B, Van Roy N, Marynen P, De Paepe A, Slater R, Speleman F |
| Genes, chromosomes & cancer. 2001 ; 30 (3) : 274-282. |
| PMID 11170285 |
| Contributor(s) |
| Written | 12-2000 | Nyla A. Heerema |
| Citation |
| This paper should be referenced as such : |
| Heerema NA . t(9;12)(q34;p13). Atlas Genet Cytogenet Oncol Haematol. December 2000 . URL : http://AtlasGeneticsOncology.org/Genes/t912ID1080.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:07:43 2008 |
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