title: Essential thrombocythemia in two sisters originating from different stem cell levels.
abstract: We report the rare occurrence of essential thrombocythemia (ET) in two sisters. In one patient, the clinical phenotype of the disease evolved from ET to polycythemia vera (PV) after 4 years of follow-up. Clonal hematopoiesis was established in both cases by X-chromosomal inactivation analysis using a DNA polymorphism of the phosphoglycerate-kinase (PGK) gene. Cell separation studies suggested a common ancestor for granulocytes, monocytes, and T lymphocytes in one patient; however, in her sister, monoclonality could only be demonstrated convincingly for the granulocyte fraction. Our data indicate that ET may originate from heterogenous stem cell levels.
authors.affiliation: Department of Pediatrics II, University of Ulm, FRG.
authors.forename: J W
authors.initials: JW
authors.lastname: Janssen
authors.forename: B R
authors.initials: BR
authors.lastname: Anger
authors.forename: H G
authors.initials: HG
authors.lastname: Drexler
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
authors.forename: H
authors.initials: H
authors.lastname: Heimpel
mesh_terms: D000368:Aged; D002469:Cell Separation; D005192:Family Health; D005260:Female; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006801:Humans; D009196:Myeloproliferative Disorders / Q000209:etiology / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D013920:Thrombocythemia, Essential / Q000209:etiology* / Q000235:genetics / Q000473:pathology