title: Spontaneous loss of Ph chromosome with maintenance of clonal hemopoiesis in an untreated patient with myeloproliferative disease and a long survival.
abstract: The unusual case of myeloproliferative disease described here is characterized by the following features: (1) a clinically completely silent course for 11 years without splenomegaly, marrow fibrosis, or cellular morphologic alterations; (2) the presence, at the onset, of a Philadelphia (Ph) chromosome without DNA breakpoints in the M-bcr region; (3) the spontaneous loss of detectable Ph-positive cells, 5 years after the first finding of leukocytosis, in the absence of any therapy; (4) the maintenance of the clonal nature of hematopoiesis, as revealed by the PGK X-linked inactivation pattern, in the absence of the Ph chromosome; and (5) a biphasic trend in the levels of leukocytes, red cells, and platelets during the years of observation.
authors.affiliation: Department of Medical Sciences, University of Modena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Luppi
authors.forename: M
authors.initials: M
authors.lastname: Morselli
authors.forename: G
authors.initials: G
authors.lastname: Emilia
authors.forename: P
authors.initials: P
authors.lastname: Temperani
authors.forename: R
authors.initials: R
authors.lastname: Marasca
authors.forename: P
authors.initials: P
authors.lastname: Barozzi
authors.forename: L
authors.initials: L
authors.lastname: Selleri
authors.forename: G
authors.initials: G
authors.lastname: Torelli
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002999:Clone Cells; D005260:Female; D006410:Hematopoiesis; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics*; D010677:Philadelphia Chromosome; D012334:RNA, Neoplasm / Q000097:blood
chemical_list: D012334:RNA, Neoplasm