title: Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement.
abstract: The restriction fragment length polymorphisms (RFLP) of the X-chromosome phosphoglycerate kinase (PGK) and hypoxanthine phosphoribosyltransferase (HPRT) genes were used to study the clonal basis of the chronic myeloproliferative disorders (CMPD). Analyses were performed on granulocyte and T-lymphocyte fractions obtained from 24 females; 13 had essential thrombocythaemia (ET), eight polycythaemia vera (PV) and three myelofibrosis with myeloid metaplasia (MMM). All 24 of these patients had monoclonal patterns of X-inactivation in the granulocyte fraction. For the T-lymphocyte fraction, non-clonal patterns of X-inactivation were observed in 8/13 patients with ET, 7/8 with PV and 1/3 with MMM, while the remaining eight subjects were found to have monoclonal patterns of X-inactivation. Our findings suggest that the majority of the CMPD in these patients originated from a relatively committed progenitor cell without the capacity to differentiate into T cells, and convincingly demonstrated heterogeneity of lineage involvement.
authors.affiliation: Third Department of Internal Medicine, Gunma University School of Medicine, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tsukamoto
authors.forename: K
authors.initials: K
authors.lastname: Morita
authors.forename: T
authors.initials: T
authors.lastname: Maehara
authors.forename: K
authors.initials: K
authors.lastname: Okamoto
authors.forename: H
authors.initials: H
authors.lastname: Sakai
authors.forename: M
authors.initials: M
authors.lastname: Karasawa
authors.forename: T
authors.initials: T
authors.lastname: Naruse
authors.forename: M
authors.initials: M
authors.lastname: Omine
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002908:Chronic Disease; D002999:Clone Cells / Q000473:pathology; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D006098:Granulocytes / Q000473:pathology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000235:genetics; D011087:Polycythemia Vera / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D055728:Primary Myelofibrosis / Q000235:genetics; D013601:T-Lymphocytes / Q000473:pathology; D013920:Thrombocythemia, Essential / Q000235:genetics; D014960:X Chromosome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase; D010735:Phosphoglycerate Kinase