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NPM1 mutations are not the only route of transformation these initiating lesions can follow: when JAK2 mutations occur, myeloproliferative neoplasms result, whereas co-mutation with SF3B1 leads to MDS with ring sideroblasts. Beyond the existing WHO subgroups, three genomic categories of AML emerge from our analysis: chromatin‚spliceosome, TP53 ‚aneuploidy, and provisionally, IDH2 R172 mutations.

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