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Coexistence of Inversion 16 and the Philadelphia Chromosome in Acute and Chronic Myeloid Leukemias
Report of Six Cases and Review of Literature

Yaping Wu MD, Marilyn L. Slovak PhD, David S. Snyder MD, Daniel A. Arber MD
DOI: http://dx.doi.org/10.1309/F0MX5CL8CEDY3W86 260-266 First published online: 1 February 2006


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 CBFβ-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.

Key Words:
  • Chronic myelogenous leukemia
  • Acute myeloid leukemia
  • t(9;22)
  • inv(16)
  • CBFβ-MYH11