
Characterisation of bcl2-jh rearrangements in follicular lymphoma: pcr detection of 3′ bcl2 breakpoints and evidence of a new cluster
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ABSTRACT Follicular lymphomas (FL) are closely associated with a t(14;18)(q32;q21) translocation, leading to a bcl2 protein overproduction. This translocation probably constitutes a very
early step in the development of the disease. Besides the cytogenetic assay, t(14;18) detection can be achieved using either Southern blot or polymerase chain reaction (PCR). Since 1990,
several publications have reported discrepancies between the results of cytogenetic and molecular analysis of t(14;18). Using methods able to explore long DNA fragments, several authors
reported breakpoints located outside the usual breakpoint regions. However, these techniques cannot be easily used in routine. The aim of this study was to develop a simple PCR assay to
amplify rearrangements usually not detected in FL. We selected a group of 83 patients with a t(14;18) on cytogenetic analysis: using usual probes and primers, 54/83 (65.1%) showed a MBR
rearrangement, 7/83 (8.4%) were mcr positive and 22/83 (26.5%) remained negative. Among these 22 rearrangements, nine could be detected using this new PCR assay. Four breakpoints were
located in a 20 bp area suggesting a recurrent breakpoint cluster close to an _Alu_ repetitive sequence. Finally, remaining negative cases (13/83, 15.6%) suggest that other breakpoints are
located between the MBR and mcr regions. _Leukemia_ (2000) 14, 1563–1569. Access through your institution Buy or subscribe This is a preview of subscription content, access via your
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* Learn about institutional subscriptions * Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS MOLECULAR CHARACTERIZATION OF _TCF3_::_PBX1_ CHROMOSOMAL
BREAKPOINTS IN ACUTE LYMPHOBLASTIC LEUKEMIA AND THEIR USE FOR MEASURABLE RESIDUAL DISEASE ASSESSMENT Article Open access 13 September 2023 CLONALITY ASSESSMENT AND DETECTION OF CLONAL
DIVERSITY IN CLASSIC HODGKIN LYMPHOMA BY NEXT-GENERATION SEQUENCING OF IMMUNOGLOBULIN GENE REARRANGEMENTS Article Open access 03 December 2021 _CREBBP_ AND _STAT6_ CO-MUTATION AND 16P13 AND
1P36 LOSS DEFINE THE T(14;18)-NEGATIVE DIFFUSE VARIANT OF FOLLICULAR LYMPHOMA Article Open access 17 June 2020 REFERENCES * Fukuhara S, Rowley JD, Variakojis D, Golomb HM . Chromosome
abnormalities in poorly differentiated lymphocytic lymphoma _Cancer Res_ 1979 39: 3119–3128 CAS PubMed Google Scholar * Tsujimoto Y, Yunis J, Nowell PC, Croce MC . Cloning of the
chromosomal breakpoint of neoplastic B cells with the t(14;18) chromosome translocation _Science_ 1984 226: 1097–1099 Article CAS PubMed Google Scholar * Bakshi A, Jensen JP, Goldman P,
Wright JJ, Wesley McBride O, Epstein A, Korsmeyer SJ . Cloning the chromosomal breakpoint of t(14;18) human lymphoma: clustering around JH on chromosome 14 and near a transcriptional unit on
18 _Cell_ 1985 41: 899–906 Article Google Scholar * Cleary ML, Sklar J . Nucleotide sequence of a t(14;18) chromosomal breakpoint in follicular lymphoma and demonstration of a breakpoint
cluster region near a transcriptionally active locus on chromosome 18 _Proc Natl Acad Sci USA_ 1985 82: 7439–7443 Article CAS PubMed PubMed Central Google Scholar * Kroemer G . The
proto-oncogene Bcl-2 and its role in regulating apoptosis _Nature Med_ 1997 3: 614–620 Article CAS PubMed Google Scholar * Korsmeyer SJ . BCL-2 gene family and the regulation of
programmed cell death _Cancer Res_ 1999 59: (7 Suppl.) 1693s–1700s CAS PubMed Google Scholar * Garson OM, Lukeis RE . Cytogenetics of malignant lymphoma _J Histotech_ 1992 15: 253–261
Article Google Scholar * Vaux DL, Cory S, Adams JM . Bcl-2 gene promotes haematopoietic cell survival and cooperates with c-myc to immortalize pre-B-cells _Nature_ 1988 335: 440–442
Article CAS PubMed Google Scholar * Cory S, Vaux DL, Strasser A, Harris WH, Adams JM . Insights from Bcl-2 and Myc: malignancy involves abrogation of apoptosis as well as sustained
proliferation _Cancer Res_ 1999 59: (7 Suppl.) 1685s–1692s CAS PubMed Google Scholar * Lee MS, Cheng KS, Cabanillas F, Freireich EJ, Trujillo JM, Stass SA . Detection of minimal residual
cells carrying the t(14;18) by DNA sequence amplification _Science_ 1987 237: 175–178 Article CAS PubMed Google Scholar * Crescenzi M, Seto M, Herzig GP, Weiss PD, Griffith RC, Korsmeyer
SJ . Thermostable DNA polymerase chain amplification of t(14;18) chromosome breakpoints and detection of minimal residual disease _Proc Natl Acad Sci USA_ 1988 85: 4869–4873 Article CAS
PubMed PubMed Central Google Scholar * Lee MS . Molecular aspects of chromosomal translocation (14;18) _Semin Hematol_ 1993 30: 297–305 CAS PubMed Google Scholar * Cleary ML, Galili N,
Sklar J . Detection of a second t(14;18) breakpoint cluster region in human follicular lymphomas _J Exp Med_ 1986 164: 315–320 Article CAS PubMed Google Scholar * Larsen CJ, Mecucci C,
Leroux D . t(2;18) and t(18;22) variant chromosomal translocations and bcl-2 gene rearrangements in human malignant lymphomas _Nouv Rev Fr Hematol_ 1990 32: 401–403 CAS PubMed Google
Scholar * Pezzella F, Ralfkiaer E, Gatter KC, Mason DY . The 14;18 translocation in european cases of follicular lymphoma: comparison of Southern blotting and the polymerase chain reaction
_Br J Haematol_ 1990 76: 58–64 Article CAS PubMed Google Scholar * Turner GE, Ross FM, Krajewski AS . Detection of t(14;18) in British follicular lymphoma using cytogenetics, Southern
blotting and the polymerase chain reaction _Br J Haematol_ 1995 89: 223–225 Article CAS PubMed Google Scholar * Horsman DE, Gascoyne RD, Coupland RW, Coldman AJ, Adomat SA . Comparison
of cytogenetics analysis, Southern analysis, and polymerase chain reaction for the detection of t(14;18) in follicular lymphoma _Am J Clin Pathol_ 1995 103: 472–478 Article CAS PubMed
Google Scholar * Zelenetz AD, Chu G, Galili N, Bangs CD, Horning SJ, Donlon TA, Cleary ML, Levy R . Enhanced detection of the t(14;18) translocation in malignant lymphoma using pulsed-field
gel electrophoresis _Blood_ 1991 78: 1552–1560 CAS PubMed Google Scholar * Akasaka T, Akasaka H, Yonetani N, Ohno H, Yamabe H, Fukuhara S, Okuma M . Refinement of the
_BCL2_/immunoglobulin heavy chain fusion gene in t(14;18)(q32;q21) by polymerase chain reaction amplification for long targets _Genes Chromosomes Cancer_ 1998 21: 17–29 Article CAS PubMed
Google Scholar * Willis TG, Jadayel DM, Coignet LJ, Abdul-Rauf M, Treleaven JG, Catovsky D, Dyer MJ . Rapid molecular cloning of rearrangements of the IGHJ locus using long-distance
inverse polymerase chain reaction _Blood_ 1997 90: 2456–2464 CAS PubMed Google Scholar * Harris NL, Jaffe ES, Stein H, Banks PM, Chan JKC, Cleary ML, Delsol G, DeWolf-Peeters C, Falini B,
Gatter KC, Grogan TM, Isaacson PG, Knowles DM, Mason DY, Muller-Hermelink HK, Pileri SA, Piris MA, Ralfkiaer E, Warnke RA . A revised European–American classification of lymphoid neoplasms:
a proposal from the International Lymphoma Study Group _Blood_ 1994 84: 1361–1392 CAS PubMed Google Scholar * Tilly H, Bastard C, Delastres T, Duval C, Bizet M, Daucé JP, Monconduit M,
Piguet H . Cytogenetics studies in untreated Hodgkin’s disease _Blood_ 1991 77: 1043–1049 Google Scholar * Harnden DE, Klinger HP (eds) . ISCN 1985 An International System for Human
Cytogenetic Nomenclature Basel, Karger 1985 * Sambrook J, Fritsch EF, Maniatis T . _Molecular cloning. A Laboratory Manual, 2nd edn_ Cold Spring Harbor: New York 1989 Google Scholar * Weiss
LM, Warnke RA, Sklar J, Cleary ML . Molecular analysis of the t(14;18) chromosomal translocation in malignant lymphoma _New Engl J Med_ 1987 317: 1185–1189 Article CAS PubMed Google
Scholar * Beishuizen A, Verhoeven MAJ, Mol EJ, Breitt TM, Wolvers-tettero ILM, VanDongen JJM . Detection of immunoglobulin heavy-chain gene rearrangement by Southern blot analysis:
recommendations for optimal results _Leukemia_ 1993 7: 2045–2053 CAS PubMed Google Scholar * Ngan BY, Nourse J, Cleary ML . Detection of chromosomal translocation t(14;18) within the
minor cluster region of bcl-2 by polymerase chain reaction and direct genomic sequencing of the enzymatically amplified DNA in follicular lymphomas _Blood_ 1989 73: 1759–1762 CAS PubMed
Google Scholar * Kwok S, Higuchi R . Avoiding false positive with PCR _Nature_ 1989 339: 237–238 Article CAS PubMed Google Scholar * Akasaka T, Murumatsu M, Ohno H, Miura I, Tatsumi E .
Fukuhara S, Mori T, Okuma M. Application of long-distance polymerase chain reaction to detection of junctional sequences created by chromosomal translocation in mature B-cell neoplasms
_Blood_ 1996 88: 985–994 CAS PubMed Google Scholar * Aubin J, Davi F, Nguyen-Salomon F, Leboeuf D, Debert C, Taher M, Valensi F, Canioni D, Brousse N, Varet B . Description of a novel FR1
IgH PCR strategy and its comparison with three other strategies for the detection of clonality in B cell malignancies _Leukemia_ 1995 9: 471–479 CAS PubMed Google Scholar * Galoin S, al
Saati T, Schlaifer D, Huynh A, Attal M, Delsol G . Oligonucleotide clonospecific probes directed against the junctional sequence of t(14;18): a new tool for the assessment of minimal
residual disease in follicular lymphomas _Br J Haematol_ 1996 94: 676–684 Article CAS PubMed Google Scholar * Ottensmeier CH, Thompsett AR, Zhu D, Wilkins BS, Sweetenham JW, Stevenson FK
. Analysis of VH genes in follicular and diffuse lymphoma shows ongoing somatic mutation and multiple isotype transcripts in early disease with changes during disease progression _Blood_
1998 91: 4292–4299 CAS PubMed Google Scholar * von Neuhoff N, Dreger P, Suttorp M, Marget M, Kell S, Schmitz N . Comparison of different strategies of molecular genetic monitoring
following autologous stem cell transplantation in patients with follicular lymphoma _Bone Marrow Transplant_ 1998 22: 161–166 Article CAS PubMed Google Scholar * Lopez-Guillermo A,
Cabanillas F, McDonnell TI, McLaughlin P, Smith T, Pugh W, Hagemeister F, Rodriguez MA, Romaguera JE, Younes A, Sarris AH, Preti HA, Lee MS . Correlation of bcl-2 rearrangement with clinical
characteristics and outcome in indolent follicular lymphoma _Blood_ 1999 93: 3081–3087 CAS PubMed Google Scholar Download references ACKNOWLEDGEMENTS This work was supported by the
Comité Départemental de Seine-Maritime de la Ligue Nationale Française Contre le Cancer. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * INSERM, EPI 9906, IFRMP No. 23, Génétique et
Hématologie Moléculaire, Centre Henri Becquerel, Rouen, France G Buchonnet, F Parmentier & C Bastard * Département d’Hématologie, Centre Henri Becquerel, Rouen, France P Lenain, S
Lepretre, A Stamatoullas, F Jardin & H Tilly * INSERM Unite 519, Centre Hospitalier et Universitaire, Rouen, France P Ruminy * Laboratoire d’Anatomie Pathologique, Centre Henri
Becquerel, Rouen, France C Duval Authors * G Buchonnet View author publications You can also search for this author inPubMed Google Scholar * P Lenain View author publications You can also
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P., Ruminy, P. _et al._ Characterisation of _BCL2_-JH rearrangements in follicular lymphoma: PCR detection of 3′ _BCL2_ breakpoints and evidence of a new cluster. _Leukemia_ 14, 1563–1569
(2000). https://doi.org/10.1038/sj.leu.2401889 Download citation * Received: 18 April 2000 * Accepted: 25 May 2000 * Published: 31 August 2000 * Issue Date: 01 September 2000 * DOI:
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currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * follicular lymphoma * _BCL2_ * minimal residual disease
* PCR