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September 28, 2016

Novel Chromosome 5 Inversion Associated With PDGFRB Rearrangement in Hypereosinophilic Syndrome

Author Affiliations
  • 1Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus
  • 2Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus
  • 3Division of Dermatology, Department of Internal Medicine, The Ohio State University, Columbus
  • 4Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University, Columbus
  • 5Department of Pathology, College of Medicine, The Ohio State University, Columbus
JAMA Dermatol. Published online September 28, 2016. doi:10.1001/jamadermatol.2016.3175

Hypereosinophilic syndrome (HES) is a rare clinical entity defined by a persistent absolute eosinophil count (AEC) of 15 000/μL for longer than 6 months, organ damage, and exclusion of reactive eosinophilia or other hematologic cancers described by the World Health Organization.1,2 (To convert eosinophils to ×109/L, multiply by 0.001.) Skin manifestations are common, affecting up to 50% of patients with HES. Skin findings include vesicles, petechiae, angioedema, livedo reticularis, necrosis, gangrene, Raynaud phenomenon, eosinophilic cellulitis and vasculitis, urticaria, symmetrical hyperkeratosis, mucosal ulcerations, and pruritus.3 We now know that hypereosinophilia is often associated with predictable genetic alterations and rearrangements, understanding of which is crucial to guiding therapy. We describe a patient with a novel inversion of chromosome 5 (inv(5)) involving PDGFRB gene rearrangement and hypereosinophilic syndrome successfully treated with imatinib.

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