title: Hypereosinophilic syndrome and cyclic oscillations in blood cell counts. A clonal disorder of hematopoiesis originating in a pluripotent stem cell.
abstract: We studied a patient with hypereosinophilic syndrome (HES) who had myeloproliferative features, was unresponsive to imatinib mesylate, and showed cyclic oscillations in blood cell counts. No rearrangement in PDGFRA, PDGFRB and ETV6 genes was detected. Clonal analysis of hematopoiesis consistently showed skewed X-chromosome inactivation patterns in both granulocytes and T-lymphocytes, indicating a clonal myeloproliferative disorder originating in a pluripotent stem cell.
authors.forename: Luca
authors.initials: L
authors.lastname: Malcovati
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Serena
authors.initials: S
authors.lastname: Merante
authors.forename: Daniela
authors.initials: D
authors.lastname: Pietra
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
authors.forename: Mario
authors.initials: M
authors.lastname: Cazzola
mesh_terms: D000328:Adult; D001772:Blood Cell Count; D002999:Clone Cells / Q000473:pathology; D005260:Female; D006410:Hematopoiesis; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D010507:Periodicity; D039904:Pluripotent Stem Cells / Q000473:pathology*; D049951:X Chromosome Inactivation