Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia

Cancer Genet Cytogenet. 2009 Jul;192(1):36-9. doi: 10.1016/j.cancergencyto.2009.02.012.

Abstract

We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL; 12p13) genes, detectable only by fluorescence in situ hybridization (FISH), in a patient with Philadelphia-negative chronic myeloid leukemia (CML). Using reverse 4',6-diamidino-2-phenylindole banding on metaphase cells, FISH analysis with BCR/ABL dual-fusion and ETV6 break-apart probes showed that a third ABL signal was inserted into 12p, splitting the ETV6 signal into two adjacent signals. CML patients with an ABL1/ETV6 fusion historically have demonstrated a variable and sometimes transient response to treatment with imatinib mesylate, which was also the case in the present patient.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 9*
  • Fatal Outcome
  • Humans
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / diagnosis
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Male
  • Mutagenesis, Insertional*
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / physiology
  • Protein-Tyrosine Kinases / genetics*
  • Protein-Tyrosine Kinases / physiology

Substances

  • Oncogene Proteins, Fusion
  • TEL-ABL fusion protein, human
  • Protein-Tyrosine Kinases