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Haematologica, Vol 92, Issue 12, 1699-1702 doi:10.3324/haematol.11737
Copyright © 2007 by Ferrata Storti Foundation
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Acute Lymphoblastic Leukemia

Atypical BCR-ABL mRNA transcripts in adult Acute lymphoblastic leukemia

Thomas Burmeister, Stefan Schwartz, Almut Taubald, Edgar Jost, Thomas Lipp, Folker Schneller, Helmut Diedrich, Henrike Thomssen, Ulrich J.M. Mey, Jan Eucker, Harald Rieder, Nicola Gökbuget, Dieter Hoelzer, Eckhard Thiel

From Charité Universitätsmedizin Berlin, Campus Benjamin Franklin, Medizinische Klinik III, Berlin, Germany (TB, SS, ET); Friedrich-Alexander-Universität, Medizinische Klinik III, Erlangen, Germany (AT); Rheinisch-Westfälische Technische Hochschule, Medizinische Klinik IV, Aachen, Germany (EJ); Städtisches Klinikum München GmbH, Klinikum Schwabing, I. Medizinische Abteilung, München Germany (TL); Technische Universität München, Klinikum rechts der Isar, III. Medizinische Klinik, München, Germany (FS); Medizinische Hochschule, Hämatologie, Hämostaseologie und Onkologie, Hannover, Germany (HD); Klinikum Bremen-Mitte, Medizinische Klinik I, Bremen, Germany (HT); Rheinische Friedrich-Wilhelms-Universität, Medizinische Klinik und Poliklinik I, Bonn, Germany (UJMM); Charité Universitätsmedizin Berlin, Campus Mitte, Medizinische Klinik II, Berlin, Germany (JE); Heinrich-Heine-Universität, Institut für Humangenetik und Anthropologie, Düsseldorf, Germany (HR); Johann Wolfgang Goethe-Universität, Medizinische Klinik II, Frankfurt/Main, Germany (NG, DH)

Correspondence: Thomas Burmeister, Charité Universitätsmedizin Berlin, Campus, Benjamin Franklin, Medizinische Klinik III, Hindenburgdamm 30, 12200 Berlin, Germany. E-mail: thomas.burmeister{at}charite.de

RT-PCR detects chimeric BCR-ABL mRNA in approximately 25% of adult acute lymphoblastic leukemia (ALL) cases. Minor breakpoint transcripts (e1a2) are found in about 70% of positive cases and major breakpoint transcripts (e13a2, e14a2) in about 30% of cases. However, other atypical transcripts are sometimes observed. We report experience gained in the GMALL Study Group and identified 8 BCR-ABL-positive adult ALL cases with such atypical transcripts: 5 with e1a3, 2 with e13a3 (b2a3), and 1 with e6a2. This corresponds to a prevalence of 1–2% of all BCR-ABL-positive cases. The clinical courses are reported and diagnostic proposals are made.

Key words: acute lymphoblastic leukemia, BCR-ABL, PCR.






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