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A novel bcl‐1/JH breakpoint from a patient affected by mantle cell lymphoma extends the major translocation cluster
Author(s) -
Degan Massimo,
Doliana Roberto,
Gloghini Annunziata,
Di Francia Raffaele,
Aldinucci Donatella,
MazzocutZecchin Linda,
Colombatti Alfonso,
Attadia Vincenza,
Carbone Antonino,
Gattei Valter
Publication year - 2002
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1096
Subject(s) - breakpoint , chromosomal translocation , biology , mantle cell lymphoma , genetics , microbiology and biotechnology , minimal residual disease , homology (biology) , gene , lymphoma , leukemia , immunology
Mantle cell lymphoma (MCL) is a B‐lymphocytic malignancy frequently associated with the presence of the t(11;14) chromosomal translocation. By using a polymerase chain reaction (PCR) strategy to detect breakpoints within the major translocation cluster (MTC), an unexpectedly large product (about 1.1 kb by using first‐round bcl‐1/JH primers) has been identified in one out of 16 patients harbouring the t(11;14) translocation. Sequence analysis of the atypical PCR product, re‐amplified and cloned with second‐round primers, revealed a 459 bp portion corresponding exactly to the 3′‐end segment of the MTC, followed by a sequence of 433 bp that lacked homology with any previously known sequence. PCR experiments using DNA from healthy donors identified that fragment as an extension of MTC fused, through a N‐region of seven nucleotides, to the JH4 region of IgH gene. A computer‐based search of the novel MTC portion aimed at detecting potential recombination motifs revealed the presence of several 4‐bp sequences (5′‐CCAG‐3′ or its complement 5′‐CTGG‐3′), one of them within seven nucleotides from the putative breakpoint, known to play a role in non‐homologous recombination events at the Ig loci. The recognition of this novel breakpoint may have important implications for the diagnosis and detection of minimal residual disease in t(11;14)‐positive lymphomas. Copyright © 2002 John Wiley & Sons, Ltd.