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Myeloid sarcoma: Clinical, Pathologic, and Molecular Findings
Ann-Kathrin Eisfeld1, L Jeffrey Medeiros2
1Division of Hematology, Department of Internal Medicine, The Ohio State University Wexner Medical Center.
Human Pathology
|August 8, 2026
Summary
Myeloid sarcoma, a tumor of myeloid blasts at extramedullary sites, is clinically similar to acute myeloid leukemia (AML). This review explores myeloid sarcoma and non-mass forming extramedullary AML, highlighting their distinct pathogenesis and the MAPK/ERK pathway.
Area of Science:
- Hematology
- Oncology
- Pathology
Background:
- Myeloid sarcoma is a neoplasm of myeloid blasts at extramedullary sites, often considered equivalent to acute myeloid leukemia (AML).
- The definition of myeloid sarcoma excludes extramedullary AML not forming a mass, leading to less defined management strategies.
- The pathogenetic relationship and clinical significance of extramedullary AML versus myeloid sarcoma remain underexplored.
Purpose of the Study:
- To review the clinicopathologic, immunophenotypic, and molecular findings of myeloid sarcoma.
- To discuss the differential diagnosis of myeloid sarcoma.
- To explore the relationship between myeloid sarcoma and non-mass forming extramedullary AML.
Main Methods:
- Literature review of clinicopathologic, immunophenotypic, and molecular findings.
- Analysis of studies on the MAPK/ERK pathway in myeloid sarcoma and extramedullary AML.
- Discussion of differential diagnoses and pathogenetic relationships.
Main Results:
- Recent studies implicate the MAPK/ERK pathway in the pathogenesis of myeloid sarcoma and extramedullary AML.
- Extramedullary myeloid disease sites may evolve independently from medullary AML due to microenvironmental factors and immune evasion.
- Distinct pathogenetic mechanisms may underlie mass-forming myeloid sarcoma and non-mass forming extramedullary AML.
Conclusions:
- Understanding the distinct evolution and pathogenesis of extramedullary myeloid neoplasms is crucial for accurate diagnosis and management.
- Further research is needed to clarify the relationship between myeloid sarcoma and extramedullary AML.
- The MAPK/ERK pathway represents a potential therapeutic target in these conditions.