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Blood, 23 April 2009, Vol. 113, No. 17, pp. 4011-4015. Prepublished online as a Blood First Edition Paper on January 14, 2009; DOI 10.1182/blood-2008-10-183483. This Article Full Text (PDF) Supplemental Materials and Methods All Versions of this Article: blood-2008-10-183483v1 113/17/4011    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Burmeister, T. Articles by Marschalek, R. Search for Related Content PubMed PubMed Citation Articles by Burmeister, T. Articles by Marschalek, R. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted October 14, 2008 Accepted December 16, 2008 The MLL recombinome of adult CD10-negative B-cell precursor acute lymphoblastic leukemia - results from the GMALL study group Thomas Burmeister*, Claus Meyer, Stefan Schwartz, Julia Hofmann, Mara Molkentin, Eric Kowarz, Bjorn Schneider, Thorsten Raff, Richard Reinhardt, Nicola Gokbuget, Dieter Hoelzer, Eckhard Thiel, and Rolf Marschalek Charite Universitatsmedizin Berlin, Campus Benjamin Franklin (CBF), Medizinsche Klinik III, Berlin, Germany Institut fur Pharmazeutische Biologie / ZAFES / Diagnostikzentrum fur Akute Leukamie (DCAL), Goethe-Universitat, Frankfurt/Main, Germany Deutsche Sammlung von Mikroorganismen und Zellkulturen (DSMZ), Braunschweig, Germany Medizinische Klinik II, Universitatsklinikum Schleswig-Holstein (UKSH), Campus Kiel, Kiel, Germany Max Planck-Institut (MPI) fur Molekulare Genetik, Berlin, Germany Goethe-Universitat, Medizinische Klinik II, Frankfurt/Main, Germany * Corresponding author; email: thomas.burmeister{at}charite.de. MLL translocations in adult B-cell precursor (BCP-) ALL are largely restricted to the immature CD10-negative immunophenotypes. MLL-AF4 is known to be the most frequent fusion transcript, but the exact frequencies of MLL aberrations in CD10-negative adult BCP-ALL are unknown. We present a genetic characterization of 184 BCR-ABL-negative CD10-negative adult ALL cases (156 cylg-, 28 cylg+) diagnosed between 2001 and 2007 at the central diagnostic laboratory of the GMALL study group. Patient samples were investigated by RT-PCR for MLL-AF4, MLL-ENL and MLL-AF9 and by long-distance inverse PCR, thus also allowing the identification of unknown MLL fusion partners at the genomic level. MLL-AF4 was detected in 101 (54.9%) and MLL-ENL in 11 (6.0%) cases. In addition, rare MLL fusion genes were found: two MLL-TET1 cases, not previously reported in ALL, one MLL-AF9 and MLL-PTD case each, a novel MLL-ACTN4 and an MLL-11q23 fusion. The chromosomal breakpoints were determined in all 118 positive cases revealing two major breakpoint cluster regions in the MLL gene. The relative frequency of different MLL-AF4 transcripts was deduced. Characteristic features of MLL+ patients were a significantly lower CD10 expression, expression of the NG2 antigen, a higher WBC at diagnosis and female gender. Proposals are made for diagnostic assessment. The clinical studies are registered at http://www.clinicaltrials.gov as NCT00199056 and NCT00198991. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: R. K. Slany The molecular biology of mixed lineage leukemia Haematologica, July 1, 2009; 94(7): 984 - 993. [Abstract] [Full Text] [PDF]

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