By DoM Communications | Date published: May 19, 2025
Maria Khouri and Shyam Patel Explore Characteristics and Clinical Outcomes of Patients with Myeloid Malignancies and Cohesin Mutations in Recent Study
In a recent study published in the journal Cancer, Maria Khouri, MD, PGY2, and Shyam Patel, MD, PhD, associate professor of medicine in the Division of Hematology/Oncology, explored the characteristics and outcomes of patients with myeloid malignancies and cohesion mutations.
In this study, the team performed clinico-genomic analysis of patients with cohesin-mutant myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The cohesin complex includes STAG2, SMC1A, and SMC3. The relevance of this mutational subset is that the prognostic significance has not been well-established in the field to date, and there are currently no FDA-approved therapeutics directed against cohesin-mutant MDS or AML. Unlike other mutational subsets of MDS or AML, the cohesin-mutant subset has been less well-defined, with minimal therapeutic options.
In this study of 83 patients, the team found that patients with STAG2 mutations had better median overall survival than patients who had only SMC1A and SMC3 mutations. The SRSF2 mutation was the most frequent co-occurring mutation and was associated with worse survival than wild-type SRSF2. Seven patients (19%) with cohesin mutations underwent hematopoietic transplantation; their median OS was 70 months and improved compared to patients who did not undergo transplant. This study sheds light on the prognostic significance of cohesin mutations in MDS and AML and calls for additional studies aimed at effectively targeting mutant cohesin subunits in select patients with MDS and AML.
Drs. Laurie Pearson, Andrew Gillis-Smith, Sakiko Suzuki, Poorva Bindal, Muthalagu Ramanathan, and Jan Cerny also contributed to the project.