title: Occurrence of BCR-ABL rearrangement in a Philadelphia chromosome-negative patient with 5q and 13q deletions and myeloproliferative syndrome.
abstract: We report the case of a patient with a myeloproliferative syndrome and traits of myelodysplasia and myelofibrosis whose karyotype showed 5q and 13q deletions, as well as Philadelphia chromosome negativity. A molecular biology study performed by Southern blot, with a probe covering the M-bcr region, led to detection of three bands other than the germinal ones, which hints at the possible existence of two cut points in the M-bcr region of an allele, or participation of both alleles. The patient presented a complex hematological picture, which might be explained on the basis of the cytogenetic and molecular findings.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Universitario San Carlos, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Villegas
authors.forename: E
authors.initials: E
authors.lastname: Anguita
authors.forename: F A
authors.initials: FA
authors.lastname: González
authors.forename: M T
authors.initials: MT
authors.lastname: Ferro
authors.forename: C
authors.initials: C
authors.lastname: San Román
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002895:Chromosomes, Human, Pair 5; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D010677:Philadelphia Chromosome
chemical_list: D016044:Fusion Proteins, bcr-abl