RAS pathway activation and microenvironmental adaptation as hallmarks of myeloid sarcoma
A rare aggressive leukemia subtype that was historically excluded from treatment trials now has a molecular profile and non-invasive blood-based monitoring approach to enable better research and care.
This first comprehensive multiomic characterization of myeloid sarcoma — an aggressive extramedullary AML subtype occurring in ~20% of patients but historically excluded from clinical trials — establishes RAS pathway activation as a universal hallmark and identifies site-specific transcriptional programs distinct from medullary AML. The proof-of-concept ctDNA data offers a path to non-invasive molecular monitoring of a cancer that is currently difficult to biopsy and diagnose.
What the study was
- Study design
- Multi-institution genomic and multiomic cohort study with proof-of-concept ctDNA substudy
- Population
- Patients with myeloid sarcoma (extramedullary AML), compared to paired medullary AML samples
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- Blood Cancer Discovery
Why it surfaced
First large-scale multiomic study of a neglected AML subtype (myeloid sarcoma, 20% of AML) from major academic centers (NYU, MD Anderson, Ohio State, Mount Sinai); identifies RAS pathway as therapeutic target; ctDNA proof-of-concept for non-invasive molecular diagnosis of extramedullary disease; Blood Cancer Discovery is a high-impact dedicated journal.
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