title: Transposition of c-abl oncogene in a case of masked Ph chromosome duplicated in blastic phase.
abstract: A female with chronic myelocytic leukemia (CML) in blastic phase (BP) showed a masked Ph chromosome that had originated by a translocation between chromosomes 8 and 22, with no obvious involvement of chromosome 9. A duplication of the masked Ph and trisomy 13 were present as additional anomalies. The karyotype on peripheral blood unstimulated cultures was 48,XX,t(8;22)(p12;q11),+13,+der(22) t(8;22)/47,XX,t(8;22)(p12;q11),+der(22)t(8;22). While the duplication of the Ph is a frequent finding in BP of CML, we did not find any other case in the literature with duplication of a masked Ph. In situ hybridization with c-abl and bcr probes showed that a 3' bcr sequence was translocated to the der(8) chromosome, while the c-abl oncogene was transposed to the masked Ph.
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Maserati
authors.forename: P
authors.initials: P
authors.lastname: Cavalli
authors.forename: R
authors.initials: R
authors.lastname: Casalone
authors.forename: S
authors.initials: S
authors.lastname: Morandi
authors.forename: F
authors.initials: F
authors.lastname: Pasquali
mesh_terms: D001752:Blast Crisis / Q000235:genetics; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D005810:Multigene Family; D010677:Philadelphia Chromosome; D011519:Proto-Oncogenes; D014178:Translocation, Genetic