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t(9;22)(p24;q11.2)

Written2005-11Stefan 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

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1331
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 NameBCR (Breakpoint cluster region)
Location 22q11.23
Gene NameJAK2 (janus kinase 2)
Location 9p24.1
Protein Janus activated kinase 2, protein tyrosine kinase

Result of the chromosomal anomaly

Hybrid gene
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.
  
Fusion Protein
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.
Expression Localisation not known
Oncogenesis Possibly constitutive activation of the tyrosine kinase.
  

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, Wörmann B, Haase D, Bohlander SK
Genes, chromosomes & cancer. 2005 ; 44 (3) : 329-333.
PMID 16001431
 

Citation

This paper should be referenced as such :
Bohlander, SK
t(9;22)(p24;q11.2)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):123-124.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0922p24q11ID1331.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(9;22)(p24;q11.2)

External links

Mitelman databaset(9;22)(p24;q11.2) [Case List]    t(9;22)(p24;q11.2) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(9;22)(p24;q11.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Nov 21 15:09:53 CET 2017


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