Coexistence of inversion 16 and the Philadelphia chromosome in acute and chronic myeloid leukemias : report of six cases and review of literature

Am J Clin Pathol. 2006 Feb;125(2):260-6. doi: 10.1309/F0MX-5CL8-CEDY-3W86.

Abstract

We report 5 cases of chronic myelogenous leukemia (CML) and 1 case of acute myeloid leukemia (AML) with the dual presence of t(9;22) and inv(16). The 6 patients were 5 men and 1 woman with a median age of 42.5 years. All cases were BCR-ABL+ with p210 products detected in all CML cases and a p190 product detected in the AML case. An increase in bone marrow eosinophils was detected in 3 of 5 cases, and abnormal eosinophils were identified in these 3 cases. The CBFbeta-MYH11 fusion gene was confirmed in all 3 CML cases and the 1 AML case tested, and this correlated with the presence of abnormal eosinophils with coarse basophilic granules. Of 5 patients with CML, 4 had a rapid transformation to myeloid accelerated phase of blast crisis. The coexistence of t(9;22) and inv(16) in CML seems to correlate with more rapid transformation.

MeSH terms

  • Adult
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 16*
  • Core Binding Factor beta Subunit / genetics
  • Female
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Middle Aged
  • Myosin Heavy Chains / genetics
  • Philadelphia Chromosome*
  • Recombinant Fusion Proteins / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • CBFB protein, human
  • Core Binding Factor beta Subunit
  • Recombinant Fusion Proteins
  • Myosin Heavy Chains