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Background: This study reports a novel case of EZH2/DNMT3A-mutated AML featuring unique basophilic rectangular crystals in blasts, associated with aggressive disease and thrombotic complications.
Methods: A 56-year-old male underwent morphological analysis (light microscopy, cytochemistry), clinical monitoring, and molecular profiling.
Results: MPO-negative rectangular crystals (3 - 20 µm) persisted despite therapy, demonstrating chemoresistance. These crystals were distinct from Auer rods and associated with an aggressive clinical course, including fatal DVT/PE within 7 months. Molecular analysis revealed EZH2/DNMT3A mutations, suggesting epigenetic dysregulation underlying both crystal formation and thrombotic predisposition.
Conclusions: This first-reported association between such crystals and EZH2/DNMT3A-mutated AML highlights their potential as high-risk markers. The findings implicate epigenetic dysregulation in treatment resistance and thrombogenesis, warranting cryo-EM studies to elucidate crystal composition and mechanisms. Clinically, this supports vigilant thromboprophylaxis and exploration of combined epigenetic/anticoagulant therapies for similar high-risk cases.
DOI: 10.7754/Clin.Lab.2025.250653
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