A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1)

Cancer Genet Cytogenet. 2006 Apr 15;166(2):180-5. doi: 10.1016/j.cancergencyto.2005.11.008.

Abstract

Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoetic stem cell characterized by the presence of the Philadelphia (Ph) chromosome in more than 90% of patients. Cryptic or "masked" BCR/ABL gene rearrangements may be found in cases with a normal karyotype and in cases with the complex karyotype, in which typical t(9;22) is not visible at the microscopic level. Those rearrangements can now be detected by fluorescence in situ hybridization. Here, we report on a novel and complex Ph chromosome-negative CML case with a t(6;9)(p21;q34.1) in which the BCR/ABL fusion gene is located at 6p21.

Publication types

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

MeSH terms

  • Bone Marrow / metabolism
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Fusion Proteins, bcr-abl / genetics*
  • Gene Rearrangement / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Male
  • Metaphase / genetics
  • Middle Aged
  • Translocation, Genetic / genetics*

Substances

  • Fusion Proteins, bcr-abl