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DOI: 10.1055/s-0031-1277073
Screening for the P2RY8-CRLF2 fusion gene in childhood acute lymphoblastic leukaemia
Childhood acute lymphoblastic leukaemia (ALL) is a heterogeneous disease characterized by a variety of genetic aberrations. Recently, a novel chromosomal rearrangement between P2RY8 and CRLF2 has been described in B-cell precursor (BCP) ALL. The P2RY8-CRLF2 fusion has been implicated in leukaemia development and appears to be associated with poor treatment outcome.
In order to confirm the relevance of P2RY8-CRLF2 in childhood BCP-ALL, we screened consecutively recruited patients from the Austrian ALL BFM 2000 protocol. While all other studies relied on CRLF2 expression, RT-PCR or FISH for the detection of the gene fusion, we have used genomic DNA for its identification. Sequencing confirmed the unique recombination in all cases and was further compared with RT-PCR data.
Overall, 6.5% of BCP-ALL cases harbour the fusion gene and have a relapse incidence of 20% after a median observation time of 6 years. These data will be discussed in the context of other currently applied risk factors.