Multiplex ligation-dependent probe amplification for detection of genomic alterations in chronic lymphocytic leukaemia

British Journal of Haematology

Volumn 142, Issue 5, 2008, Pages 793-801

  Coll Mulet, Llorenç ^a   Santidrián, Antonio F ^a   Cosialls, Ana M ^a   Iglesias Serret, Daniel ^a   De Frias, Mercè ^a   Grau, Javier ^b   Menoyo, Anna ^c   González Barca, Eva ^d   Pons, Gabriel ^a   Domingo, Alicia ^c   Gil, Joan ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d CATALAN INSTITUTE OF ONCOLOGY   (Spain)

Author keywords

Chronic lymphocytic leukaemia; Deletions; Fluorescence in situ hybridization; Genomic alterations; Multiplex ligation dependent probe amplification

Indexed keywords

ARTICLE; CHROMOSOME 12; CHROMOSOME 6Q; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CHRONIC LYMPHATIC LEUKEMIA; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; GENE PROBE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

CELL CYCLE PROTEINS; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; DNA-BINDING PROTEINS; GENE AMPLIFICATION; GENE DOSAGE; GENES, P53; GENOMICS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PROTEIN-SERINE-THREONINE KINASES; SPAIN; TUMOR SUPPRESSOR PROTEINS;

EID: 48749095241     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07268.x     Document Type: Article

References (33)

1. Bastard, C., Raux, G., Fruchart, C., Parmentier, F., Vaur, D., Penther, D., Troussard, X., Nagib, D., Lepretre, S., Tosi, M., Frebourg, T. Tilly, H. (2007) Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients. Leukemia, 21, 1460 1463.
2. Bentz, M., Huck, K., du Manoir, S., Joos, S., Werner, C.A., Fischer, K., Dohner, H. Lichter, P. (1995) Comparative genomic hybridization in chronic B-cell leukemias shows a high incidence of chromosomal gains and losses. Blood, 85, 3610 3618.
3. Buijs, A., Krijtenburg, P.J. Meijer, E. (2006) Detection of risk-identifying chromosomal abnormalities and genomic profiling by multiplex ligation-dependent probe amplification in chronic lymphocytic leukemia. Haematologica, 91, 1434 1435.
4. Calin, G.A. Croce, C.M. (2006) Genomics of chronic lymphocytic leukemia microRNAs as new players with clinical significance. Seminars in Oncology, 33, 167 173.
5. Caporaso, N., Goldin, L., Plass, C., Calin, G., Marti, G., Bauer, S., Raveche, E., McMaster, M.L., Ng, D., Landgren, O. Slager, S. (2007) Chronic lymphocytic leukaemia genetics overview. British Journal of Haematology, 139, 630 634.
6. Chena, C., Sarmiento, M., Palacios, M.F., Scolnik, M. Slavutsky, I. (2000) Dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic leukemia. Acta Haematologica, 104, 197 201.
7. Chiorazzi, N., Rai, K.R. Ferrarini, M. (2005) Chronic lymphocytic leukemia. The New England Journal of Medicine, 352, 804 815.
8. Coll-Mulet, L., Iglesias-Serret, D., Santidrian, A.F., Cosialls, A.M., de Frias, M., Castano, E., Campas, C., Barragan, M., de Sevilla, A.F., Domingo, A., Vassilev, L.T., Pons, G. Gil, J. (2006) MDM2 antagonists activate p53 and synergize with genotoxic drugs in B-cell chronic lymphocytic leukemia cells. Blood, 107, 4109 4114.
9. Cotter, F.E. Auer, R.L. (2007) Genetic alteration associated with chronic lymphocytic leukemia. Cytogenetic and Genome Research, 118, 310 319.
10. Dicker, F., Schnittger, S., Haferlach, T., Kern, W. Schoch, C. (2006) Immunostimulatory oligonucleotide-induced metaphase cytogenetics detect chromosomal aberrations in 80% of CLL patients: a study of 132 CLL cases with correlation to FISH, IgVH status, and CD38 expression. Blood, 108, 3152 3160.
11. Dierlamm, J., Wlodarska, I., Michaux, L., Vermeesch, J.R., Meeus, P., Stul, M., Criel, A., Verhoef, G., Thomas, J., Delannoy, A., Louwagie, A., Cassiman, J.J., Mecucci, C., Hagemeijer, A. Van den Berghe, H. (1997) FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12. Genes, Chromosomes and Cancer, 20, 155 166.
12. Dohner, H., Stilgenbauer, S., Dohner, K., Bentz, M. Lichter, P. (1999) Chromosome aberrations in B-cell chronic lymphocytic leukemia: reassessment based on molecular cytogenetic analysis. Journal of Molecular Medicine, 77, 266 281.
13. Dohner, H., Stilgenbauer, S., Benner, A., Leupolt, E., Krober, A., Bullinger, L., Dohner, K., Bentz, M. Lichter, P. (2000) Genomic aberrations and survival in chronic lymphocytic leukemia. The New England Journal of Medicine, 343, 1910 1916.
14. Grever, M.R., Lucas, D.M., Dewald, G.W., Neuberg, D.S., Reed, J.C., Kitada, S., Flinn, I.W., Tallman, M.S., Appelbaum, F.R., Larson, R.A., Paietta, E., Jelinek, D.F., Gribben, J.G. Byrd, J.C. (2007) Comprehensive assessment of genetic and molecular features predicting outcome in patients with chronic lymphocytic leukemia: results from the US Intergroup Phase III Trial E2997. Journal of Clinical Oncology, 25, 799 804.
15. Kienle, D.L., Korz, C., Hosch, B., Benner, A., Mertens, D., Habermann, A., Krober, A., Jager, U., Lichter, P., Dohner, H. Stilgenbauer, S. (2005) Evidence for distinct pathomechanisms in genetic subgroups of chronic lymphocytic leukemia revealed by quantitative expression analysis of cell cycle, activation, and apoptosis-associated genes. Journal of Clinical Oncology, 23, 3780 3792.
16. Mayr, C., Speicher, M.R., Kofler, D.M., Buhmann, R., Strehl, J., Busch, R., Hallek, M. Wendtner, C.M. (2006) Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia. Blood, 107, 742 751.
17. Merup, M., Juliusson, G., Wu, X., Jansson, M., Stellan, B., Rasool, O., Roijer, E., Stenman, G., Gahrton, G. Einhorn, S. (1997) Amplification of multiple regions of chromosome 12, including 12q13-15, in chronic lymphocytic leukaemia. European Journal of Haematology, 58, 174 180.
18. Merup, M., Moreno, T.C., Heyman, M., Ronnberg, K., Grander, D., Detlofsson, R., Rasool, O., Liu, Y., Soderhall, S., Juliusson, G., Gahrton, G. Einhorn, S. (1998) 6q deletions in acute lymphoblastic leukemia and non-Hodgkin's lymphomas. Blood, 91, 3397 3400.
19. Novak, U., Oppliger Leibundgut, E., Hager, J., Muhlematter, D., Jotterand, M., Besse, C., Leupin, N., Ratschiller, D., Papp, J., Kearsey, G., Aebi, S., Graber, H., Jaggi, R., Luthi, J.M., Meyer-Monard, S., Lathrop, M., Tobler, A. Fey, M.F. (2002) A high-resolution allelotype of B-cell chronic lymphocytic leukemia (B-CLL). Blood, 100, 1787 1794.
20. Odero, M.D., Soto, J.L., Matutes, E., Martin-Subero, J.I., Zudaire, I., Rao, P.H., Cigudosa, J.C., Ardanaz, M.T., Chaganti, R.S., Perucho, M. Calasanz, M.J. (2001) Comparative genomic hybridization and amplotyping by arbitrarily primed PCR in stage A B-CLL. Cancer Genetics and Cytogenetics, 130, 8 13.
21. Rimokh, R., Rouault, J.P., Wahbi, K., Gadoux, M., Lafage, M., Archimbaud, E., Charrin, C., Gentilhomme, O., Germain, D., Samarut, J. Magaud, J.P. (1991) A chromosome 12 coding region is juxtaposed to the MYC protooncogene locus in a t(8;12)(q24;q22) translocation in a case of B-cell chronic lymphocytic leukemia. Genes, Chromosomes and Cancer, 3, 24 36.
22. Schouten, J.P., McElgunn, C.J., Waaijer, R., Zwijnenburg, D., Diepvens, F. Pals, G. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research, 30, e57.
23. Schwaenen, C., Nessling, M., Wessendorf, S., Salvi, T., Wrobel, G., Radlwimmer, B., Kestler, H.A., Haslinger, C., Stilgenbauer, S., Dohner, H., Bentz, M. Lichter, P. (2004) Automated array-based genomic profiling in chronic lymphocytic leukemia: development of a clinical tool and discovery of recurrent genomic alterations. Proceedings of the National Academy of Sciences of the United States of America, 101, 1039 1044.
24. Seiler, T., Dohner, H. Stilgenbauer, S. (2006) Risk stratification in chronic lymphocytic leukemia. Seminars in Oncology, 33, 186 194.
25. Sellner, L.N. Taylor, G.R. (2004) MLPA and MAPH: new techniques for detection of gene deletions. Human Mutation, 23, 413 419.
26. Shanafelt, T.D., Witzig, T.E., Fink, S.R., Jenkins, R.B., Paternoster, S.F., Smoley, S.A., Stockero, K.J., Nast, D.M., Flynn, H.C., Tschumper, R.C., Geyer, S., Zent, C.S., Call, T.G., Jelinek, D.F., Kay, N.E. Dewald, G.W. (2006) Prospective evaluation of clonal evolution during long-term follow-up of patients with untreated early-stage chronic lymphocytic leukemia. Journal of Clinical Oncology, 24, 4634 4641.
27. Slater, H., Bruno, D., Ren, H., La, P., Burgess, T., Hills, L., Nouri, S., Schouten, J. Choo, K.H. (2004) Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Human Mutation, 24, 164 171.
28. Soengas, M.S., Capodieci, P., Polsky, D., Mora, J., Esteller, M., Opitz-Araya, X., McCombie, R., Herman, J.G., Gerald, W.L., Lazebnik, Y.A., Cordon-Cardo, C. Lowe, S.W. (2001) Inactivation of the apoptosis effector Apaf-1 in malignant melanoma. Nature, 409, 207 211.
29. Stilgenbauer, S., Bullinger, L., Lichter, P. Dohner, H. (2002) Genetics of chronic lymphocytic leukemia: genomic aberrations and V(H) gene mutation status in pathogenesis and clinical course. Leukemia, 16, 993 1007.
30. Sturm, I., Bosanquet, A.G., Radetzki, S., Hummel, M., Dorken, B. Daniel, P.T. (2006) Silencing of APAF-1 in B-CLL results in poor prognosis in the case of concomitant p53 mutation. International Journal of Cancer, 118, 2329 2336.
31. Vallat, L., Magdelenat, H., Merle-Beral, H., Masdehors, P., Potocki de Montalk, G., Davi, F., Kruhoffer, M., Sabatier, L., Orntoft, T.F. Delic, J. (2003) The resistance of B-CLL cells to DNA damage-induced apoptosis defined by DNA microarrays. Blood, 101, 4598 4606.
32. Wang, T.Y., Samples, D.M., Dabdoub, R. Prakash, O. (1991) c-myc and K-ras-2 oncogenes in B-cell chronic lymphocytic leukemia with del(12)(p13). Cancer Genetics and Cytogenetics, 51, 125 130.
33. Yamamoto, H., Gil, J., Schwartz, Jr., S. Perucho, M. (2000) Frameshift mutations in Fas, Apaf-1, and Bcl-10 in gastro-intestinal cancer of the microsatellite mutator phenotype. Cell Death and Differentiation, 7, 238 239.