PDGFB Breakapart Probe LPH031 - Detail

Some cases of Chronic Myelomonocytic Leukaemia (CML) have constitutive activation of the gene for PDGFRB (platelet derived growth factor receptor beta) which encodes a receptor for tyrosine kinase¹. The activation is usually caused by a t(5;12)(q32;p13) translocation which results in the ETV6-PDGFRB fusion gene. The drug imatinib mesylate (Gleevec) specifically inhibits the kinase activity of PDGFRB and has shown efficiency in the treatment of chronic myeloid leukaemia and gastrointestinal stromal tumours. The breakpoint in PDGFRB is characteristically located in intron 10². It is located 10.7kb from the end of the gene.

Reference:/Bibliographie/Literatur/Bibliografia

1. Apperley JF et al (2002) N Engl J Med 347: 481-487
2. Tokita K et al (2007) Leukemia 21: 190-192