TY - JOUR
T1 - A novel bcl-1/JH breakpoint from a patient affected by mantle cell lymphoma extends the major translocation cluster
AU - Degan, Massimo
AU - Doliana, Roberto
AU - Gloghini, Annunziata
AU - Di Francia, Raffaele
AU - Aldinucci, Donatella
AU - Mazzocut-Zecchin, Linda
AU - Colombatti, Alfonso
AU - Attadia, Vincenza
AU - Carbone, Antonino
AU - Gattei, Valter
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
KW - Bcl-1/JH breakpoint
KW - Major translocation cluster (MTC)
KW - Mantle cell lymphoma (MCL)
KW - Minimal residual disease
KW - PCR
KW - T(11;14) translocation
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U2 - 10.1002/path.1096
DO - 10.1002/path.1096
M3 - Article
C2 - 12015751
AN - SCOPUS:0036265231
VL - 197
SP - 256
EP - 263
JO - Journal of Pathology
JF - Journal of Pathology
SN - 0022-3417
IS - 2
ER -