C K Brierley, B H Yip, G Orlando, H Goyal, S Wen, J Wen, M F Levine, G M Jakobsdottir, A Rodriguez-Meira, A Adamo, M Bashton, A Hamblin, S A Clark, J O'Sullivan, L Murphy, A A Olijnik, A Cotton, S Narina, S M Pruett-Miller, A Enshaei, C Harrison, M Drummond, S Knapper, A Tefferi, I Antony-Debré, S Thongjuea, D C Wedge, S Constantinescu, E Papaemmanuil, B Psaila, J D Crispino, A J Mead
Chromothripsis, the process of catastrophic shattering and haphazard repair of chromosomes, is a common event in cancer. Whether chromothripsis might constitute an actionable molecular event amenable to therapeutic targeting remains an open question. We describe recurrent chromothripsis of chromosome 21 in a subset of patients in blast phase of a myeloproliferative neoplasm (BP-MPN), which alongside other structural variants leads to amplification of a region of chromosome 21 in ∼25% of patients ('chr21amp')...
December 10, 2023: bioRxiv