title: The Philadelphia (Ph) chromosome in leukemia. I. A new mechanism due to interstitial deletion and insertion in chronic myelocytic leukemia.
abstract: The Philadelphia (Ph) chromosome in leukemia is invariably derived from chromosome #22. A break occurs in the long (q) arm of chromosome #22 and, in every case observed until now, all of the material from that breakpoint through the telomere of chromosome #22 has been reciprocally translocated to another chromosome, most often chromosome #9. With the t(9;22) translocation, the oncogene c-sis moves from chromosome #22 onto 9q and the oncogene c-abl moves reciprocally from chromosome #9 onto 22q. We report a new mechanism for the genesis of the Ph chromosome in chronic myelocytic leukemia (CML) involving interstitial deletion of chromosome #22 with insertion of the deleted material into another chromosome: 46,XX,dir ins(11;22)(q13;q11q13). The distal portion of chromosome #22, including the telomere, appeared to have been retained in the Ph chromosome. There was no visible involvement of chromosome #9. This insertional deletion is of potential importance in evaluating the roles of oncogenes such as c-abl and c-sis in the Ph rearrangement in the origin of leukemia.
authors.forename: F
authors.initials: F
authors.lastname: Hecht
authors.forename: R
authors.initials: R
authors.lastname: Morgan
authors.forename: S L
authors.initials: SL
authors.lastname: Schrier
authors.forename: J
authors.initials: J
authors.lastname: Adams
authors.forename: A A
authors.initials: AA
authors.lastname: Sandberg
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D014178:Translocation, Genetic
chemical_list: D004251:DNA Transposable Elements; D006918:Hydroxyurea