We have identified a rare BCR-ABL chimaeric gene with multiplex and nested RT-PCR in a patient with an unusually aggressive chronic myeloid leukaemia. cDNA sequencing showed an in-frame rearrangement with a breakpoint in BCR exon e13 (b2) and fusion with ABL exon 3 following skipping of the entire ABL exon a2. These data confirm the heterogeneity of breakpoints in BCR-ABL rearrangements.

Heisterkamp N, Groffen J: Molecular insight into the Philadelphia translocation. Haematol Pathol 1991;5:1–10.
Ben Neriah Y, Daley GQ, Mes-Masson AM, Witte ON, Baltimore D: The chronic myelogenous leukemia specific p210 protein is the product of the BCR-ABL hybrid gene. Science 1986;233:212.
Chan LC, Kahy KK, Rayter SI, Heisterkamp N, Eridani S, Powles R, Lawler SD, Groffen J, Foutkes JG, Greaves ML, Wiedemann L: A novel abl protein expressed in Philadelphia chromosome positive acute lymphoblastic leukaemia. Nature 1987;325:635–637.
How GF, Tan LT, Lim LC: Chronic myeloid leukemia with a19a2 (c3a2) BCR/ABL fusion-junction – is it truly a benign disease? Leukemia 1998;12:1166–1167.
Melo JV: The diversity of BCR-ABL fusion protein and their relationship to leukemia phenotype. Blood 1996;88:2375–2384.
Soekarman D, van Denderen J, Hoefsloot L, Moret M, Meeuwsen T, van Baal J, Hagemeijer A, Grosveld G: A novel variant of the bcr-abl fusion product in Philadelphia chromosome positive acute lymphoblastic leukemia. Leukemia 1990;4:397–403.
van Der Plas DC, Soekarman D, van Gent AM, Grosveld G, Hagemeijer A: bcr-abl mRNA lacking abl exon a2 detected by polymerase chain reaction in a chronic myelogeneous leukemia. Leukemia 1991;5:457–461.
Inukai T, Sugita K, Suzuki T, Ijima K, Goy K, Tezuka T, Kojika S, Hatakeyama K, Kagami K, Mori T, Okazaki T, Mizutani S, Nakazawa S: A novel 203 kD aberrant BCR-ABL product in a girl with Philadelphia chromosome positive acute lymphoblastic leukaemia. Br J Haematol 1993;85:823–825.
Iwata S, Mizutani S, Nakazawa S, Yata J-I: Heterogeneity of the breakpoint in the ABL gene in cases with BCR/ABL transcript lacking ABL exon a2. Leukemia 1994;8:1696–1702.
Martinelli G: Concomitant expression of the rare E1/A3 and B2/A3 types of BCR/ABL transcript in a chronic myeloid leukaemia (CML) patient. Leukemia 1999;13:1463–1464.
Otazu IB, Zalcberg I, Dobbin J, Tabak D, Seuánez HN: Detection of BCR-ABL transcripts by multiplex and nested PCR in different haematological disorders. Leuk Lymph 2000;37:205–211.
Burmeister T, Maurer J, Aivado M, Elmaagacli AH, Grunebach F, Held KR, Hess G, Hochhaus A, Hoppner W, Lentes KU, Lubbert M, Schafer KL, Schaufhausen P, Schmidt CA, Schuler F, Seeger K, Seelig R, Thiede C, Viehmann S, Weber C, Wilhelm S, Christmann A, Clement JH, Ebener U, Enczmann J, Leo R, Schleuning M, Schoch R, Thiel E: Quality assurance in RT-PCR-based BCR/ABL diagnostics – Results of an interlaboratory test and a standardization approach. Leukemia 2000;14:1850–1856.
Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL: Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet 1992;1:427–432.
Hochhaus A, Reiter A, Skladny H, Melo JV, Sick C, Berger U, Guo JQ, Arlinghaus RB, Hehlmann R, Goldman JM, Cross NCP: A novel BCR-ABL fusion gene (e6a2) in a patient with Philadelphia chromosome negative chronic myelogeneous leukemia. Blood 1996;88:2236–2240.
Pendergast AM, Muller AJ, Havlik MH, Maru Y, Witte ON: BCR sequences essential for transformation by the BCR/ABL oncogene being to the ABL SH2 regulatory domain in a non-phosphotyrosine-dependent manner. Cell 1991;66:161–171.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.