Transposition of c-abl oncogene in a case of masked Ph chromosome duplicated in blastic phase

Hum Genet. 1988 Mar;78(3):248-50. doi: 10.1007/BF00291671.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blast Crisis / genetics
  • Chromosome Banding
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / pathology
  • Middle Aged
  • Multigene Family*
  • Philadelphia Chromosome*
  • Proto-Oncogenes*
  • Translocation, Genetic*