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Blood, 1 May 2002, Vol. 99, No. 9, pp. 3465-3467
BRIEF REPORT
Transient response to imatinib mesylate (STI571) in a
patient with the ETV6-ABL t(9;12) translocation
Stephen G. O'Brien,
Sara
A. D. Vieira,
Samantha Connors,
Nick Bown,
James Chang,
Renaud Capdeville, and
Junia V. Melo
From the School of Clinical and Laboratory Sciences and
the School of Biochemistry and Genetics, University of Newcastle; the
Department of Haematology, Imperial College of Science, Technology and
Medicine, Hammersmith Hospital, London; the Department of Haematology,
Christie Hospital and Holt Radium Institute, Manchester, United
Kingdom; and Novartis Pharma AG, Basel, Switzerland.
We report the transient response of a patient with the
ETV6-ABL fusion gene to imatinib mesylate (STI571). A
38-year-old man was referred with an erroneous diagnosis of
Philadelphia-positive chronic myeloid leukemia in blastic
transformation for treatment with the ABL tyrosine kinase
inhibitor, STI571. Further investigation indicated that the patient in
fact had acute myeloid leukemia; no evidence of the Philadelphia
translocation or BCR-ABL was found using
fluorescence in situ hybridization (FISH) or reverse
transcription-polymerase chain reaction. Detailed FISH analysis
identified a cryptic t(9;12) translocation, and molecular studies
confirmed the presence of the ETV6-ABL fusion transcript.
Because the patient was gravely ill at presentation, treatment was
commenced immediately with STI571 monotherapy, resulting in
considerable initial improvement. However within 10 days the patient's
condition again deteriorated, and he required conventional
chemotherapy. This case has implications for the design of future
studies using STI571 in leukemias involving ABL-encoded
fusion proteins other than BCR-ABL.
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