Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate

British Journal of Haematology

Volumn 122, Issue 1, 2003, Pages 85-93

  Barbouti, Aikaterini ^a   Ahlgren, Tomas ^a   Johansson, Bertil ^b   Höglund, Mattias ^b   Lassen, Carin ^b   Turesson, Ingemar ^a   Mitelman, Felix ^b   Fioretos, Thoas ^b  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b University Hospital ^*

Author keywords

Blast crisis; Chronic myeloid leukaemia; ETV6 ABL1; Imatinib mesylate

Indexed keywords

IMATINIB;

ADULT; ARTICLE; BLAST CELL CRISIS; BLOOD CELL; CANCER RECURRENCE; CASE REPORT; CHIMERA; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHRONIC MYELOID LEUKEMIA; CLINICAL FEATURE; CONTROLLED STUDY; ETV6 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE EXPRESSION; GENE MUTATION; GENETICS; HUMAN; LABORATORY TEST; MALE; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; REPRESSOR GENE;

ADULT; ANTINEOPLASTIC AGENTS; BLAST CRISIS; ENZYME INHIBITORS; FATAL OUTCOME; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOID, CHRONIC; MALE; ONCOGENE PROTEINS, FUSION; PIPERAZINES; PROTEIN-TYROSINE KINASES; PYRIMIDINES; RECURRENCE;

EID: 0038683894     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04391.x     Document Type: Article

References (41)

1. Andreasson, P., Johansson, B., Carlsson, M., Jarlsfelt, I., Fioretos, T., Mitelman, F. & Höglund, M. (1997) BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. Genes, Chromosomes and Cancer, 20, 299-304.
2. Apperley, J.F., Gardembas, M., Melo, J.V., Russell-Jones, R., Bain, B.J., Baxter, E.J., Chase, A., Chessells, J.M., Colombat, M., Dearden, C.E., Dimitrijevic, S., Mahon, F.X., Marin, D., Nikolova, Z., Olavarria, E., Silberman, S., Schultheis, B., Cross, N.C. & Goldman, J.M. (2002) Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. New England Journal of Medicine, 347, 481-487.
3. Barbouti, A., Johansson, B., Höglund, M., Mauritzson, N., Strömbeck, B., Nilsson, P.G., Tanke, H.J., Hagemeijer, A., Mitelman, F. & Fioretos, T. (2002) Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression. Genes, Chromosomes and Cancer, 35, 127-137.
4. Branford, S., Rudzki, Z., Walsh, S., Grigg, A., Arthur, C., Taylor, K., Herrmann, R., Lynch, K.P. & Hughes, T.P. (2002) High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. Blood, 99, 3472-3475.
5. Brunel, V., Sainty, D., Carbuccia, N., Mozzicolacci, M., Fenandez, F., Simonetti, J., Gabert, J., Dubreuil, P., Lafage-Pochitaloff, M. & Birg, F. (1996) A TEL/ABL fusion gene on chromosome 12p13 in a case of Ph-, BCR- atypical CML. Leukemia, 10, 2003.
6. von Bubnoff, N., Schneller, F., Peschel, C. & Duyster, J. (2002) BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. Lancet, 359, 487-491.
7. Carroll, M., Ohno-Jones, S., Tamura, S., Buchdunger, E., Zimmermann. J., Lydon, N.B., Gilliland, D.G. & Druker, B.J. (1997) CGP 57148, a tyrosine kinase inhibitor, inhibits the growth of cells expressing BCR-ABL, TEL-ABL, and TEL-PDGFR fusion proteins. Blood, 90, 4947-4952.
8. Cave, H., Cacheux, V., Raynaud, S., Brunie, G., Bakkus, M., Cochaux, P., Preudhomme, C., Lai, J.L., Vilmer, E. & Grandchamp, B. (1997) ETV6 is the target of chromosome 12p deletions in t(12:21) childhood acute lymphocytic leukemia. Leukemia, 11, 1459-1464.
9. le Coutre, P., Tassi, E., Varella-Garcia, M., Barni, R., Mologni, L., Cabrita, G., Marchesi, E., Supino, R. & Gambacorti-Passerini, C. (2000) Induction of resistance to the Abelson inhibitor STI571 in human leukemic cells through gene amplification. Blood, 95, 1758-1766.
10. Deininger, M.W., Goldman, J.M. & Melo. J.V. (2000) The molecular biology of chronic myeloid leukemia. Blood, 96, 3343-3356.
11. Desmaze, C., Brizard, F., Turc-Carel, C., Melot, T., Delattre, O., Thomas, G. & Aurias, A. (1997) Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. Cancer Genetics and Cytogenetics, 97, 12-19.
12. Druker, B.J. (2002) STI571 (Gleevec) as a paradigm for cancer therapy. Trends in Molecular Medicine, 8, s14-s18.
13. Druker, B.J., Sawyers, C.L., Kantarjian, H., Resta, D.J., Reese, S.F., Ford, J.M., Capdeville, R. & Talpaz, M. (2001) Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. New England Journal of Medicine, 344, 1038-1042.
14. Faderl, S., Kantarjian, H.M. & Talpaz, M. (1999) Chronic myelogenous leukemia: update on biology and treatment. Oncology (Huntingtons), 13, 169-184.
15. Fioretos, T., Panagopoulos, I., Lassen, C., Swedin, A., Billström, R., Isaksson, M., Strömbeck, B., Olofsson, T., Mitelman, F. & Johansson, B. (2001) Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8:22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. Genes, Chromosomes and Cancer, 32, 302-310.
16. Golub, T.R., Goga, A., Barker, G.F., Afar, D.E., McLaughlin, J., Bohlander, S.K., Rowley, J.D., Witte, O.N. & Gilliland, D.G. (1996) Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. Molecular and Cell Biology, 16, 4107-4116.
17. Golub, T.R., Barker, G.F., Stegmaier, K. & Gilliland, D.G. (1997) The TEL gene contributes to the pathogenesis of myeloid and lymphoid leukemias by diverse molecular genetic mechanisms. Current Topics in Microbiology and Immunology, 220, 67-79.
18. Gorre, M.E., Mohammed, M, Ellwood, K., Hsu, N., Paquette, R., Rao, P.N. & Sawyers, C.L. (2001) Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science, 293, 876-880.
19. Hannemann, J.R., McManus, D.M., Kabarowski, J.H. & Wiedemann, L.M. (1998) Haemopoietic transformation by the TEL/ABL oncogene. British Journal of Haematology, 102, 475-485.
20. Janssen, J.W., Ridge, S.A., Papadopoulos, P., Cotter, F., Ludwig, W.D., Fonatsch, C., Rieder, H., Ostertag, W., Bartram, C.R. & Wiedemann, L.M. (1995) The fusion of TEL and ABL in human acute lymphoblastic leukaemia is a rare event. British Journal of Haematology, 90, 222-224.
21. Johansson, B., Fioretos, T. & Mitelman, F. (2002) Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematologica, 107, 76-94.
22. Kantarjian, H., Sawyers, C., Hochhaus, A., Guilhot, F., Schiffer, C., Gambacorti-Passerini, C., Niederwieser, D., Resta, D., Capdeville, R., Zoellner, U., Talpaz, M., Druker, B., Goldman, J., O'Brien, S.G., Russell, N., Fischer, T., Ottmann, O., Cony-Makhoul, P., Facon, T., Stone, R., Miller, C., Tallman, M., Brown, R., Schuster, M., Loughran, T., Gratwohl, A., Mandelli, F., Saglio, G., Lazzarino, M., Russo, D., Baccarani, M. & Morra, E. (2002) Hematologic and cytogenetic responses to imatinib mesylate in chronic myelogenous leukemia. New England Journal of Medicine, 346, 645-652.
23. La Starza, R., Trubia, M., Testoni, N., Ottaviani, E., Belloni, E., Crescenzi, B., Martelli, M., Flandrin, G., Pelicci, P.G. & Mecucci, C. (2002) Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. Haematologica, 87, 789-794.
24. Lin, H., Guo, J.Q., Andreeff, M. & Arlinghaus, R.B. (2002) Detection of dual TEL-ABL transcripts and a Tel-Abl protein containing phosphotyrosine in a chronic myeloid leukemia patient. Leukemia, 16, 294-297.
25. McWhirter, J.R., Galasso, D.L. & Wang, J.Y. (1993) A coiled-coil oligomerization domain of Bcr is essential for the transforming function of Bcr-Abl oncoproteins. Molecular and Cell Biology, 13, 7587-7595.
26. Million, R.P., Aster, J., Gilliland, D.G. & Van Etten, R.A. (2002) The Tel-Abl (ETV6-Abl) tyrosine kinase, product of complex (9:12) translocations in human leukemia, induces distinct myeloproliferative disease in mice. Blood, 99, 4568-4577.
27. Mitelman, F., Johansson, B. & Mertens, F. (eds) (2002) Mitelman Database of Chromosome Aberrations in Cancer. WWW document. URL: http://cgap.nci.nih.gov/Chromosomes/Mitelman
28. Nilsson, T., Andreasson, P., Höglund, M., Fioretos, T., Billström, R., Garwicz, S., Mitelman, F. & Johansson, B. (1998) ETV6/ABL fusion is rare in Ph-negative chronic myeloid disorders. Leukemia, 12, 1167-1168.
29. O'Brien, S.G., Vieira, S.A., Connors, S., Bown, N., Chang, J., Capdeville, R. & Melo, J.V. (2002) Transient response to imatinib mesylate (STI571) in a patient with the ETV6-ABL t(9:12) translocation. Blood, 99, 3465-3467.
30. Papadopoulos, P., Ridge, S.A., Boucher, C.A, Stocking, C. & Wiedemann, L.M. (1995) The novel activation of ABL by fusion to an ets-related gene. TEL. Cancer Research, 55, 34-38.
31. Poirel, H., Lacronique, V., Mauchauffe, M., Le Coniat, M., Raffoux, E., Daniel, M.T., Erickson, P., Drabkin, H., MacLeod, R.A., Drexler, H.G., Ghysdael, J. Berger, R. & Bernard, O.A. (1998) Analysis of TEL proteins in human leukemias. Oncogene, 16. 2895-2903.
32. Raff, T., van der Giet, M., Endemann, D., Wiederholt, T. & Paul, M. (1997) Design and testing of beta-actin primers for RT-PCR that do not co-amplify processed pseudogenes. Biotechniques, 23, 456-460.
33. Roche-Lestienne, C., Soenen-Cornu, V., Grardel-Duflos, N., Lai, J.L., Philippe, N., Facon, T., Fenaux, P. & Preudhomme, C. (2002) Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. Blood, 100, 1014-1018.
34. Sawyers, C.L., Hochhaus, A., Feldman, E., Goldman, J.M., Miller, C.B., Ottmann, O.G., Schiffer, C.A., Talpaz, M., Guilhot, F., Deininger, M.W., Fischer, T., O'Brien, S.G., Stone, R.M., Gambacorti-Passerini, C.B., Russell, N.H., Reiffers, J.J., Shea, T.C., Chapuis, B., Coutre, S., Tura, S., Morra, E., Larson, R.A., Saven, A., Peschel, C., Gratwohl, A., Mandelli, F., Ben-Am, M., Gathmann, I., Capdeville, R., Paquette, R.L. & Druker, B.J. (2002) Imatinib induces hematologic and cytogenetic responses in patients with chronic myelogenous leukemia in myeloid blast crisis: results of a phase II study. Blood, 99, 3530-3539.
35. Sharrocks, A.D. (2001) The ETS-domain transcription factor family. Nature Reviews Molecular Cell Biology, 2, 827-837.
36. Sirulink, A., Silver, R.T. & Najfeld, V. (2001) Marked ploidy and BCR-ABL gene amplification in vivo in a patient treated with STI571. Leukemia, 15, 1795-1797.
37. Van Limbergen, H., Beverloo, H.B., van Drunen, E., Janssens, A., Hahlen, K., Poppe, B., Van Roy, N., Marynen, P., De Paepe, A., Slater, R. & Speleman, F. (2001) Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia. Genes, Chromosomes and Cancer, 30, 274-282.
38. Van Limbergen, H., Poppe, B., Janssens, A., De Bock, R., De Paepe, A., Noens, L. & Speleman, F. (2002) Molecular cytogenetic analysis of 10:11 rearrangementsin acute myeloid leukemia. Leukemia, 16, 344-351.
39. Voss, J., Posern, G., Hannemann, J.R., Wiedemann, L.M., Turhan, A.G., Poirel, H., Bernard, O.A., Adermann, K., Kardinal, C. & Feller, S.M. (2000) The leukaemic oncoproteins Bcr-Abl and Tel-Abl (ETV6/Abl) have altered substrate preferences and activate similar intracellular signalling pathways. Oncogene, 19, 1684-1690.
40. Wang, L.C. Kuo, F., Fujiwara, Y., Gilliland, D.G., Golub, T.R. & Orkin, S.H. (1997) Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL. EMBO Journal, 16, 4374-4383.
41. Wang, L.C., Swat, W., Fujiwara, Y., Davidson, L., Visvader, J., Kuo, F., Alt, F.W., Gilliland, D.G., Golub, T.R. & Orkin, S.H. (1998) The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow. Genes and Development, 12, 2392-2402.