PMID- 11964320 OWN - NLM STAT- MEDLINE DCOM- 20020619 LR - 20231213 IS - 0006-4971 (Print) IS - 0006-4971 (Linking) VI - 99 IP - 9 DP - 2002 May 1 TI - Transient response to imatinib mesylate (STI571) in a patient with the ETV6-ABL t(9;12) translocation. PG - 3465-7 AB - 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. FAU - O'Brien, Stephen G AU - O'Brien SG AD - School of Clinical and Laboratory Sciences and the School of Biochemistry and Genetics, University of Newcastle, United Kingdom. s.g.o'brien@ncl.ac.uk FAU - Vieira, Sara A D AU - Vieira SA FAU - Connors, Samantha AU - Connors S FAU - Bown, Nick AU - Bown N FAU - Chang, James AU - Chang J FAU - Capdeville, Renaud AU - Capdeville R FAU - Melo, Junia V AU - Melo JV LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Blood JT - Blood JID - 7603509 RN - 0 (Benzamides) RN - 0 (DNA-Binding Proteins) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Piperazines) RN - 0 (Proto-Oncogene Proteins c-ets) RN - 0 (Pyrimidines) RN - 0 (Repressor Proteins) RN - 8A1O1M485B (Imatinib Mesylate) SB - IM MH - Acute Disease MH - Adult MH - Benzamides MH - *Chromosomes, Human, Pair 12 MH - *Chromosomes, Human, Pair 9 MH - DNA-Binding Proteins/*genetics MH - Genes, abl/*genetics MH - Humans MH - Imatinib Mesylate MH - Leukemia, Myeloid/diagnosis/drug therapy/genetics MH - Male MH - Oncogene Proteins, Fusion/genetics MH - Piperazines/*administration & dosage/pharmacology MH - Proto-Oncogene Proteins c-ets MH - Pyrimidines/*administration & dosage/pharmacology MH - Recurrence MH - Repressor Proteins/*genetics MH - *Translocation, Genetic MH - ETS Translocation Variant 6 Protein EDAT- 2002/04/20 10:00 MHDA- 2002/06/20 10:01 CRDT- 2002/04/20 10:00 PHST- 2002/04/20 10:00 [pubmed] PHST- 2002/06/20 10:01 [medline] PHST- 2002/04/20 10:00 [entrez] AID - S0006-4971(20)61029-1 [pii] AID - 10.1182/blood.v99.9.3465 [doi] PST - ppublish SO - Blood. 2002 May 1;99(9):3465-7. doi: 10.1182/blood.v99.9.3465.