--- a +++ b/README.md @@ -0,0 +1,26 @@ +Title of Dataset: Cohesin\_mutations\_in\_acute\_myeloid\_leukemia\_data +======================================================================== + +Patients with acute myeloid leukemia (AML) from previously reported +multicenter trials: AML96 \[NCT00180115\], AML2003 \[NCT00180102\], +AML60+ \[NCT 00180167\], SORAML \[NCT00893373\] Pre-treatment peripheral +blood or bone marrow aspirates were screened for genetic alterations +using next-generation sequencing (NGS) + +Results: We identified distinct co-mutational patters for mutations of +STAG2, which were associated with normal karyotypes (NK) and concomitant +mutations in IDH2, RUNX1, BCOR, ASXL1, and SRSF2. Mutated RAD21 was +associated with NK, mutated EZH2, KRAS, CBL, and NPM1. We found almost +complete mutual exclusivity of genetic alterations of individual cohesin +subunits. Conclusion: This mutual exclusivity may be the basis for +therapeutic strategies via synthetic lethality in cohesin mutated AML. + +Data description: Cohesin mutation status is displayed differentiating +between RAD21, STAG2, SMC3, SMC1A p.HGVS codes are used to denote +specific alterations presence (1) or absence (0) of a feature is +reported European Leukemia Net 2022 (ELN2022) risk stratification +(Döhner et al., Blood 2022) was used. + +Further information on clinical trial protocols can be obtained from +www.clinicaltrials.gov using the following identifiers: NCT00180115, +NCT00180102, NCT 00180167, SORAML NCT00893373