A multiplex PCR for improved detection of typical and atypical BCR-ABL fusion transcripts

Leukemia Research

Volumn 32, Issue 4, 2008, Pages 579-585

  Burmeister, Thomas ^a   Reinhardt, Richard ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Acute lymphoblastic leukemia; BCR ABL fusion proteins; Chronic myeloid leukemia; Myeloproliferative disorders; Polymerase chain reaction

Indexed keywords

BCR ABL PROTEIN; MESSENGER RNA;

ACUTE LYMPHOCYTIC LEUKEMIA; ARTICLE; CHROMOSOME BREAKAGE; CHRONIC MYELOID LEUKEMIA; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FUSION PROTEINS, BCR-ABL; HUMANS; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA, NEOPLASM; SENSITIVITY AND SPECIFICITY; TRANSCRIPTION, GENETIC;

EID: 39049083317     PISSN: 01452126     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.leukres.2007.08.017     Document Type: Article

References (35)

1. Nowell P.C., and Hungerford D.A. A minute chromosome in human chronic granulocytic leukemia. Science 147 (1960) 1497
2. Heisterkamp N., Stephenson J.R., Groffen J., Hansen P.F., de Klein A., Bartram C.R., et al. Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature 306 (1983) 239-242
3. Groffen J., Stephenson J.R., Heisterkamp N., de Klein A., Bartram C.R., and Grosveld G. Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 36 (1984) 93-99
4. Tefferi A., Dewald G.W., Litzow M.L., Cortes J., Mauro M.J., Talpaz M., et al. Chronic myeloid leukemia: current application of cytogenetics and molecular testing for diagnosis and treatment. Mayo Clin Proc 80 (2005) 390-402
5. Maurer J., Janssen J.W.G., Thiel E., Van Denderen J., Ludwig W.-D., Aydemir U., et al. Detection of chimeric BCR/ABL genes in acute lymphoblastic leukemia by the polymerase chain reaction. Lancet 337 (1991) 1055-1058
6. Cross N.C., Melo J.V., Feng L., and Goldman J.M. An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in haematological disorders. Leukemia 8 (1994) 186-189
7. van Dongen J.J., Macintyre E.A., Gabert J.A., Delabesse E., Rossi V., Saglio G., et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 concerted action: investigation of minimal residual disease in acute leukaemia. Leukemia 13 (1999) 1901-1928
8. Burmeister T., Maurer J., Aivado M., Elmaagacli A.H., Grünebach F., Held K.R., et al. Quality assurance in RT-PCR-based BCR/ABL diagnostics-results of an interlaboratory test and a standardization approach. Leukemia 14 (2000) 1850-1856
9. Gabert J., Beillard E., van der Velden V.H., Bi W., Grimwade D., Pallisgaard N., et al. Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-a Europe against cancer program. Leukemia 17 (2003) 2318-2357
10. Hughes T., Deininger M., Hochhaus A., Branford S., Radich J., Kaeda J., et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood 108 (2006) 28-37
11. Branford S., Cross N.C., Hochhaus A., Radich J., Saglio G., Kaeda J., et al. Rationale for the recommendations for harmonizing current methodology for detecting BCR-ABL transcripts in patients with chronic myeloid leukaemia. Leukemia 20 (2006) 1925-1930
12. Hochhaus A., Reiter A., Skladny H., Melo J.V., Sick C., Berger U., et al. A novel BCR-ABL fusion gene (e6a2) in a patient with Philadelphia chromosome-negative chronic myelogenous leukemia. Blood 88 (1996) 2236-2240
13. Grégoire M.-J., Latger-Cannard V., Staal A., Bologna S., Leotard B., Rault J.-P., et al. Identification of an acute basophilic leukaemia carrying a rare e6a2 BCR-ABL transcript. Acta Haematol 116 (2006) 216-218
14. Pane F., Frigeri F., Sindona M., Luciano L., Ferrara F., Cimino R., et al. Neutrophilic-chronic myeloid leukemia: a distinct disease with a specific molecular marker (BCR/ABL with C3/A2 junction). Blood 88 (1996) 2410-2414
15. Rotoli B., Pane F., Salvatore F., and Saglio G. The e19a2 bcr/abl breakpoint in acute lymphoblastic leukaemia. Br J Haematol 110 (2000) 493-496
16. Martínez-López J., Ayala R., and Albizua Q. Typical chronic myelogenous leukemia with e19a2 BCR/ABL transcript. Report of two cases. Haematologica 87 (2002) ELT35
17. Ito T., Tanaka H., Tanaka K., Ito K., Kyo T., Dohy H., et al. Insertion of a genomic fragment of chromosome 19 between BCR intron 19 and ABL intron 1a in a chronic myeloid leukaemia patient with micro-BCR-ABL (e19a2) transcript. Br J Haematol 126 (2004) 752-753
18. Al-Ali H.K., Leiblein S., Kovacs I., Hennig E., Niederwieser D., and Deininger M.W. CML with an e1a3 BCR-ABL fusion: rare, benign, and a potential diagnostic pitfall. Blood 100 (2002) 1092-1093
19. Roman J., Jimenez A., Barrios M., Castillejo J.A., Maldonado J., and Torres A. E1A3 as a unique, naturally occurring BCR-ABL transcript in an indolent case of chronic myeloid leukaemia. Br J Haematol 114 (2001) 635-637
20. Snyder D.S., McMahon R., Cohen S.R., and Slovak M.L. Chronic myeloid leukemia with an e13a3 BCR-ABL fusion: benign course responsive to imatinib with an RT-PCR advisory. Am J Hematol 75 (2004) 92-95
21. Melo J.V. BCR-ABL gene variants. Baillieres Clin Haematol 10 (1997) 203-222
22. Polák J., Zemanová Z., Michalová K., Klamová H., Cermák J., and Haskovec C. A new case of chronic myeloid leukemia (CML) in myeloid blast crisis with an atypical (b3/a3) junction of the BCR/ABL gene. Leukemia 12 (1998) 250
23. Cayuela J.M., Rousselot P., Nicolini F., Espinouse D., Ollagnier C., Bui-Thi M.H., et al. Identification of a rare e8a2 BCR-ABL fusion gene in three novel chronic myeloid leukemia patients treated with imatinib. Leukemia 19 (2005) 2334-2336
24. Schultheis B., Wang L., Clark R.E., and Melo J.V. BCR-ABL with an e6a2 fusion in a CML patient diagnosed in blast crisis. Leukemia 17 (2003) 2054-2055
25. Damaj G., Delabesse E., Le Bihan C., Asnafi V., Rachid M., Lefrere F., et al. Typical essential thrombocythaemia does not express BCR-ABL fusion transcript. Br J Haematol 116 (2002) 812-816
26. Demehri S., Paschka P., Schultheis B., Lange T., Koizumi T., Sugimoto T., et al. e8a2 BCR-ABL: more frequent than other atypical BCR-ABL variants?. Leukemia 19 (2005) 681-684
27. Tchirkov A., Couderc J.L., Perissel B., Goumy C., Regnier A., Uhrhammer N., et al. Major molecular response to imatinib in a patient with chronic myeloid leukemia expressing a novel form of e8a2 BCR-ABL transcript. Leukemia 20 (2006) 167-168
28. Leibundgut E.O., Jotterand M., Rigamonti V., Parlier V., Muhlematter D., Tobler A., et al. A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7. Br J Haematol 106 (1999) 1041-1044
29. Roman J., Parziale A., Gottardi E., De Micheli D., Cilloni D., Tiribelli M., et al. Novel type of BCR-ABL transcript in a chronic myelogenous leukaemia patient relapsed after bone marrow transplantation. Br J Haematol 111 (2000) 644-646
30. Moreno Mdel P., Cortinas M.N., Bonomi R., Cardeza A., and Uriarte Mdel R. A novel BCR-ABL fusion transcript (e15a2) in 2 patients with atypical chronic myeloproliferative syndrome. Blood 97 (2001) 3668-3669
31. Bose S., Deininger M., Gora-Tybor J., Goldman J.M., and Melo J.V. The presence of typical and atypical BCR-ABL fusion genes in leukocytes of normal individuals: biologic significance and implications for the assessment of minimal residual disease. Blood 92 (1998) 3362-3367
32. Dessars B., El Housni H., Lambert F., Kentos A., and Heimann P. Rational use of the EAC real-time quantitative PCR protocol in chronic myelogenous leukemia: report of three false-negative cases at diagnosis. Leukemia 20 (2006) 886-888
33. Wang L., Seale J., Woodcock B.E., and Clark R.E. e19a2-positive chronic myeloid leukaemia with BCR exon e16-deleted transcripts. Leukemia 16 (2002) 1562-1563
34. Popovici C., Cailleres S., David M., Lafage-Pochitaloff M., Sainty D., and Mozziconacci M.J. E6a2 BCR-ABL fusion with BCR exon 5-deleted transcript in a Philadelphia positive CML responsive to imatinib. Leuk Lymphoma 46 (2005) 1375-1377
35. Liu L.G., Tanaka H., Ito K., Kyo T., Ito T., and Kimura A. Chronic myelogenous leukemia with e13a3 (b2a3) type of BCR-ABL transcript having a DNA breakpoint between ABL exons a2 and a3. Am J Hematol 74 (2003) 268-272