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t(5;17)(q33;p11.2)

Clinics and Pathology

Disease Juvenile myelomonocytic leukemia.
Epidemiology Only one case available to date: a 18-month-old boy.
Clinics Marked hepatosplenomegaly, trombocytopenia.
Cytology Peripheral blood leukocytosis with eosinophilia, bone marrow fibrosis (grade III), dry tap.
Treatment Allogeneic BMT.
Evolution Alive and free of disease after 4 years.

Cytogenetics

Probes LSI CSF1R probe (Vysis) for PDGFRB (5q33); RP11-7904 (telomeric) and RP11-81D5 (centromeric) for HCMOGT-1 (p11.2).

Genes involved and Proteins

Gene Name PDGFRB
Location 5q33
Protein Ig like, transmembrane and tyrosine kinase domains.
Gene Name HCMOGT-1
Location 17p11.2

Result of the chromosomal anomaly

Hybrid gene
Description 5'HCMOGT-1/3'PDGFRB The HCMOGT1 cDNA sequence was fused in-frame to PDGFRB at nucleotide 1936 and situated 5' to the PDGFRB portion, as in previous studies of PDGFRB fusion partners.
Transcript HCMOGT-1/PDGFRB chimeric RNA present.
  
Fusion Protein
Description Coiled-coil domain from HCMOGT-1 fused to the transmembrane domain and the Tyr kinase domain of PDGFRB; the reciprocal PDGFRB/HCMOGT-1 transcript is not expressed.
  

External links

Other databaset(5;17)(q33;p11.2) Mitelman database (CGAP - NCBI)
Other databaset(5;17)(q33;p11.2) CancerChromosomes (NCBI)

To be noted

.

Bibliography

Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis.
Laguinge LM, Lin S, Samara RN, Salesiotis AN, Jessup JM
Cancer research. 2004 ; 64 (8) : 2643-2648.
PMID 15087371
 

Contributor(s)

Written09-2004Claudio Panarello

Citation

This paper should be referenced as such :
Panarello C . t(5;17)(q33;p11.2). Atlas Genet Cytogenet Oncol Haematol. Septem ber 2004 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0517q33p11ID1327.html

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