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In utero rearrangements in the trithorax-related oncogene in infant leukaemias

Abstract

THE majority ( 75%) of infant acute leukaemias have a reciprocal translocation between chromosome 11q23 and one of several partner chromosomes1. The gene at 1lq23 (named MLL, ALL-1, HRX or HTRX-1; refs 2–6) has been cloned and shares homology with the Drosophila developmental gene trithorax3–5. Rearrangements of this gene (called HRX here) occur in introns and cluster in a region of 10 kb; individual patients have different breakpoints3–10. Here we describe three pairs of infant twins with concordant leukaemia who each share unique (clonal) but non-constitutive HRX rearrangements in their leukaemic cells, providing evidence that the leukaemogenic event originates in utero and unequivocal support for the intra-placental 'metastasis' hypothesis for leukaemia concordance in twins11.

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Ford, A., Ridge, S., Cabrera, M. et al. In utero rearrangements in the trithorax-related oncogene in infant leukaemias. Nature 363, 358–360 (1993). https://doi.org/10.1038/363358a0

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