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A potential treatment for blast phase myeloproliferative neoplasm (BP-MPN), one of the most aggressive forms of leukaemia, has been identified by a research team at the University of Oxford. In a study published in Nature Genetics, researchers investigated the role of chromothripsis — a dramatic event in which chromosomes shatter and are stitched back together in disordered ways — in BP-MPN, a characteristically treatment-resistant type of leukaemia.
The team, led by the Mead Group at the MRC Weatherall Institute of Molecular Medicine (MRC WIMM), found that a quarter of patients with BP-MPN carried an abnormal gain of genetic material from chromosome 21, known as chr21amp. The team analysed samples from 64 patients with BP-MPN. In some cases, this abnormal gain was caused by chromothripsis, highlighting the disruptive impact of this phenomenon in cancer genomes.
Crucially, the study, which was supported by the National Institute for Health and Care Research Oxford Biomedical Research Centre, showed that this chromosome amplification was linked to poorer outcomes in patients with BP-MPN, making it a potential biomarker for more aggressive disease. Within the amplified region, researchers identified a single gene, DYRK1A, as consistently overexpressed and more accessible in the DNA of cancer cells carrying this abnormality.