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Blood, 15 June 2007, Vol. 109, No. 12, pp. 5422-5429.
Prepublished online as a Blood First Edition Paper on March 1, 2007; DOI 10.1182/blood-2006-11-057208.
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Submitted November 13, 2006
Accepted February 25, 2007
Inactivation of RB1 in mantle cell lymphoma detected by nonsense-mediated mRNA decay pathway inhibition and microarray analysis
Magda Pinyol, Silvia Bea, Laura Pla, Vincent Ribrag, Jacques Bosq, Andreas Rosenwald, Elias Campo, and Pedro Jares*
Genomics Unit, Dept of Pathology, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Spain
Hematopathology Unit, Dept of Pathology, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Spain
Dept of Medicine, Institut Gustave Roussy, France
Dept of Pathology, Institut Gustave Roussy, France
Institute of Pathology, University of Wuerzburg, Germany
* Corresponding author; email: pjares{at}clinic.ub.es.
Mantle cell lymphoma (MCL) is genetically characterized by the translocation t(11;14)(q13;q32) and a high number of secondary chromosomal abnormalities. To identify genes inactivated in this lymphoma we examined five MCL cell lines following a strategy previously described in tumors with microsatellite instability that is based on the combined inhibition of the nonsense-mediated mRNA decay pathway and gene expression profiling. This approach together with the design of a conservative algorithm for the analysis of the results allowed the identification of three genes carrying premature stop codons. These genes were p53 with a mutation previously described in JEKO-1, the leukocyte-derived arginine aminopeptidase (LRAP) gene in REC-1 that showed a new splicing isoform generating a premature stop codon, and RB1 in UPN-1 that contained an intragenic homozygous deletion resulting in a truncated transcript and total loss of protein expression. The new LRAP isoform was detected also in two primary MCL whereas inactivating intragenic deletions of RB1 were found in the primary tumor from which UPN-1 was derived and one additional blastoid MCL. These tumors carried a concomitant inactivation of p53 whereas p16INK4a was wild type. These results indicate for the first time that RB1 may be inactivated in aggressive MCL by intragenic deletions.
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