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Title of Dataset: Cohesin\_mutations\_in\_acute\_myeloid\_leukemia\_data |
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======================================================================== |
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Patients with acute myeloid leukemia (AML) from previously reported |
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multicenter trials: AML96 \[NCT00180115\], AML2003 \[NCT00180102\], |
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AML60+ \[NCT 00180167\], SORAML \[NCT00893373\] Pre-treatment peripheral |
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blood or bone marrow aspirates were screened for genetic alterations |
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using next-generation sequencing (NGS) |
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Results: We identified distinct co-mutational patters for mutations of |
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STAG2, which were associated with normal karyotypes (NK) and concomitant |
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mutations in IDH2, RUNX1, BCOR, ASXL1, and SRSF2. Mutated RAD21 was |
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associated with NK, mutated EZH2, KRAS, CBL, and NPM1. We found almost |
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complete mutual exclusivity of genetic alterations of individual cohesin |
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subunits. Conclusion: This mutual exclusivity may be the basis for |
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therapeutic strategies via synthetic lethality in cohesin mutated AML. |
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Data description: Cohesin mutation status is displayed differentiating |
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between RAD21, STAG2, SMC3, SMC1A p.HGVS codes are used to denote |
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specific alterations presence (1) or absence (0) of a feature is |
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reported European Leukemia Net 2022 (ELN2022) risk stratification |
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(Döhner et al., Blood 2022) was used. |
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Further information on clinical trial protocols can be obtained from |
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www.clinicaltrials.gov using the following identifiers: NCT00180115, |
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NCT00180102, NCT 00180167, SORAML NCT00893373 |