Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(9;22)(p24;q11.2)
| Identity |
| Note | Only one case with this translocation has been reported yet. |
 | |
| G-banded chromosomes showing t(9;22)(p24;q11.2) | |
| Clinics and Pathology |
| Disease | typical chronic myeloid leukemia (CML) |
| Phenotype / cell stem origin | hematopoietic stem cell? |
| Epidemiology | only one case described so far |
| Treatment | no response to Imatinib! |
| Prognosis | Blast crisis developed 20 months after initial diagnosis. The patient died 24 months after initial |
| Cytogenetics |
| Cytogenetics Molecular | FISH with a BCR/ABL probe (dual color dual fusion) will show a split of the BCR signal but no fusion signals and two normal ABL signals. |
| Additional anomalies | 7q deletion and trisomy 19 was found at blast crisis. |
| Genes involved and Proteins |
| Gene Name | BCR1 |
| Location | 22q11.2 |
| Gene Name | JAK2 |
| Location | 9p24 |
| Protein | Janus activated kinase 2, protein tyrosine kinase |
| Result of the chromosomal anomaly |
| Note | Only the BCR-JAK2 fusion transcript was detected. The reciprocal JAK2-BCR fusion transcript could not be amplified. |
 | |
| Nucleotide and amino acid sequence across the BCR-JAK2 fusion breakpoint. | |
| Detection | The fusion transcript can be detected by RT-PCR using the 5' BCR sense primer: 5'-cagaactcgcaacagtccttc-3'(bp 1602-1622) and the 3' JAK2 antisense primer: 5'tcataccggcacatctccacac-3' (bp 3100-3081 ). A PCR product of 300 bp should be expected. Please note that since only one case is known, the breakpoints may vary slightly in future cases. This might necessitate the design of different primers. |
| Note | The fusion protein was not detected on Western blots. |
 | |
| Note that this is just the hypothetical BCR-JAK2 fusion protein. Numbers are amino acids from start of protein. The fusion protein contains the coiled-coiled domain of BCR and the kinase domain (PK1 or JH1) of JAK2. | |
| Description | The fusion protein is presumably a constitutively active kinase. |
| Oncogenesis | Possibly constitutive activation of the tyrosine kinase. |
| External links |
| Other database | t(9;22)(p24;q11.2) | Mitelman database (CGAP - NCBI) | |
| Other database | t(9;22)(p24;q11.2) | 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 |
| A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia. |
| Griesinger F, Hennig H, Hillmer F, Podleschny M, Steffens R, Pies A, Wrmann B, Haase D, Bohlander SK |
| Genes, chromosomes & cancer. 2005 ; 44 (3) : 329-333. |
| PMID 16001431 |
| Contributor(s) |
| Written | 11-2005 | Stefan K Bohlander |
| Department of Medicine III, University Hospital Grosshadern, Marchioninistr. 15, D-81377 Munich, Germany or/ bGSF, Clinical Cooperative Group Leukemia, Marchioninistr. 25, D-81377 Munich, Germany |
| Citation |
| This paper should be referenced as such : |
| Bohlander SK . t(9;22)(p24;q11.2). Atlas Genet Cytogenet Oncol Haematol. November 2005 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0922p24q11ID1331.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:49 2008 |
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