Molecular detection of t(8;21)/AML1-ETO in AML M1/M2: Correlation with cytogenetics, morphology and immunophenotype

British Journal of Haematology

Volumn 92, Issue 4, 1996, Pages 855-865

  Andrieu, Valérie ^a   Radford Weiss, Isabelle ^a   Troussard, Xavier ^c   Chane, Catherine ^a   Valensi, Françoise ^a   Guesnu, Martine ^d   Haddad, Elie ^a   Viguier, Frank ^b   Dreyfus, François ^d   Varet, Bruno ^a   Flandrin, Georges ^a   Macintyre, Elizabeth ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔTEL DIEU   (France)

^c CHU Clemenceau   (France)

^d Université Paris Descartes   (France)

Author keywords

AML; AML1 ETO; morphology; PCR; t(8; 21)

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTICLE; CHILD; CHROMOSOME TRANSLOCATION 8; CYTOGENETICS; FEMALE; HUMAN; HUMAN CELL; IMMUNOPHENOTYPING; MAJOR CLINICAL STUDY; MALE; MORPHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 9244255318     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1996.415954.x     Document Type: Article

References (46)

1. Bennett, J.M., Catovsky, D., Daniel, M.T., Flandrin, G., Galton, D.A.G., Gralnick, H.R. & Sultan, C. (1985) Proposed revised criteria for the classification of acute myeloid leukemia: a report of the French-American-British cooperative group. Annals of Internal Medicine, 103, 620-625.
2. Berger, R., Bernheim, A., Daniel, M., Valensi, F., Sigaux, F. & Flandrin, G. (1982) Cytologic characterization and significance of normal karyotypes in t(8;21) acute myeloblastic leukemia. Blood. 59, 171-178.
3. Bloomfield, C., Lawrence, D., Arthur, D., Berg, D., Schiffer, C. & Mayer, R. (1994) Curative impact of intensification with high-dose cytarabine (HIDAC) in acute myeloid leukemia (AML) varies by cytogenetic group. (Abstract). Blood, 84, 431.
4. Burnett, A., Goldstone, A., Stevens, R., Hann, L., Rees, J., Wheatley, K. & Gray, R. (1994) The role of BMT in addition to intensive chemotherapy in AML in lirst CR: results of the MRC AML-10 trial. (Abstract). Blood, 84, 992.
5. Chang, K., Fan, Y., Stass, S., Estey, E., Wang. G., Trujillo, J., Erikson, P. & Drabkin, H. (1995) Expression of AML1-ETO fusion transcripts and detection of minimal residual disease in t(8;21)-positive acute myeloid leukemia. Oncogene, 8, 983-988.
6. Chomczynski, P. & Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidium isothiocyanate-phenol-chloroform extraction. Analytical Biochemistry, 162, 156-159.
7. Daga, A., Tighe, J.E. & Calabi, F. (1992) Leukaemia/Drosophila homology. (Letter). Nature, 356, 484.
8. de Greef, G.K., Hagemeijer, A., Morgan, R., Wijsman, J., Hoefsloot, L.H., Sandberg, A.A. & Sacchi, N. (1995) Identical fusion transcript associated with different breakpoints in the AML1 gene in simple and variant t(8;21) acute myeloid leukemia. Leukemia, 9, 282-287.
9. Erickson, P., Gao, J., Chang, K.S., Look, T., Whisenant, E., Raimondi, S., Lasher, R., Trujillo, J., Rowley, J. & Drabkin, IL (1992) Identification of breakpoints In t(8:21) acute myelogenous leukemia and isolation of a fusion transcript. AML1/ETO, with similarity to Drosophila segmentation gene, runt. Blood, 80, 1825-1831.
10. Fenaux, P., Preudhomme, C., Laö, J.L., Morel, P., Beuscart, R. & Bauters, F. (1989) Cytogenetics and their prognostic value in de novo acute myeloid leukaemia: a report on 283 cases. British Journal of Haematology, 73, 61-67.
11. Finke, J., Fritzen, R., Ternes, P., Lange, W. & Dolken, G. (1993) An improved strategy and a useful housekeeping gene for RNA analysis from formalin-fixed, paraffin-embedded tissues by PCR. Biotechniques, 14, 448-453.
12. Groupe Français de Cytogénétique Hématologique (GFHC) (1990) Acute myelogenous leukemia with an 8;21 translocation: a report on 148 cases from the Groupe Français de Cytogénétique Hématologique. Cancer Genetics and Cytogenetics, 44, 169-179.
13. Guerrassio, A., Rosso, C., Marinelli, G., Lo Coco, F., Pampinella, M., Santoro, A., Lanza, C., Allione, H., Resegotti, L. & Saglio, G. (1995) Polyclonal haemopoiesis associated with long-term persistence of the AMI1-ETO transcript in patients with FAB M2 acute myeloid leukaemia in continuous complete remission. British Journal of Haematology, 90, 364-368.
14. Hagemeijer, A., Garson, O. & Kondo, K. (1984) Translocation t(8:21)(q22;q22) in acute nonlymphocytic leukemia. Fourth International Workshop on Chromosomes in Leukemia. 1982. Cancer Genetics and Cytogenetics, 11, 284-287.
15. Hunger, S.P., Galili, N., Carroll, A.J., Crist, W.M., Link, M.P. & Cleary, M.L. (1991) The t(1:19)(q23:p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias. Blood, 77, 687-693.
16. Hurwitz, C.A., Raimondi, S.C., Head, D., Krance, R., Mirro, J., Jr. Kalwinsky, D.K., Ayers, G.D. & Behm, F.G. (1992) Distinctive immunophenotypic features of t(8:21)(q22:q22) acute myeloblastic leukemia in children. Blood, 80, 3182-3138.
17. Kita, K., Nakase, K., Miwa, H., Masuya, M., Nishii, K., Morlta, N., Takakura, N., Otsuji, A., Shirakawa, S., Ueda, T., et al (1992) Phenotypical characteristics of acute myelocytic leukemia associated with the t(8:21)(q22;q22) chromosomal abnormality: frequent expression of immature B-cell antigen CD19 together with stem cell antigen CD34. Blood, 80, 470-477.
18. Kita, K., Shirakawa, S. & Kamada, N. (1994) Cellular characteristics of acute myeloblastic leukemia associated with t(8;21)(q22;q22). The Japanese Cooperative Group of Leukemia/Lymphoma. Leukemia and Lymphoma, 13, 229-234.
19. Kusec, R., Laczika, K., Knöbl, P., Friedl, J., Greinix, H., Kahls, P., Linkesch, W., Schwarzinger, I., Mitterbauer, G., Purtscher, B., Haas, O., Lechner, K. & Jaeger, K. (1994) AML1/ETO fusion mRNA can be detected in remission blood samples of all patients with t(8;21) acute myeloid leukemia after chemotherapy or autologous bone marrow transplantation. Leukemia, 8, 735-739.
20. Liu, P., Tarle, S.A., Hajra, A., Claxton, D.F., Marlton, P., Freedman, M., Siciliano, M.J. & Collins, F.S. (1993) Fusion between transcription factor CBF-β/PEBP-2-β and a myosin heavy chain in acute myeloid leukemia. Science, 261, 1041-1044.
21. Maruyama, F., Stass, S.A., Esley, E.F., Cork, A., Hirano, M., Ino, T., Freireich, E.J., Yang, P. & Chang, K.-S. (1994) Detection of AML1/ ETO fusion transcript as a tool for diagnosing t(8:21) positive acute myelogenous leukemia. Leukemia, 8, 40-45.
22. Maruyama, F., Yang, P., Stass, S.A., Cork, A., Freireich, E.J., Lee, M.-S. & Chang, K.-S. (1993) Detection of the AML1/ETO fusion transcript in the t(8:21) masked translocation in acute myelogenous leukemia. Cancer Research, 53, 4449-4451.
23. Maseki, N., Miyoshi, H., Shimizu, K., Homma, C., Ohki, M., Sakurai, M. & Kaneko, Y. (1993) The 8:21 chromosome translocation in acute myeloid leukemia is always detectable by molecular analysis using AML1. Blood, 81, 1573-1579.
24. Mayer, R., Davis, R., Schiffer, C., Berg, D., Powell, B., Schulman, P., Omura, G., Moore, J., McIntyre, O. & Frei, E. (1994) Intensive postremission chemotherapy in adults with acute myeloid leukemia. New England Journal of Medicine, 331, 896-905.
25. Mitelman, F. (1991) Guidelines for Cancer Cytogenetics, Supplement to an International System for Human Cytogenetic Nomenclature (ISCN). S. Karger, Basel.
26. Mitelman, F. & Heim, S. (1992) Quantitative acute leukemia cytogenetics. Genes, Chromosomes, Cancer, 5, 57-66.
27. Miyoshi, H., Kozu, T., Shimizu, K., Enomoto, K., Maseki, N., Kaneko, Y., Kamada, N. & Ohki, M. (1993) The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. HMBO Journal, 12, 2715-2721.
28. Miyoshi, H., Shimizu, K., Kozu, T., Maseki, N., Kaneko, Y. & Ohki, M. (1991) t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proceedings of the National Academy of Sciences of the United States of America, 88, 10431-10434.
29. Nisson, P.E., Watkins, P.C. & Sacchi, N. (1992) Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells. Cancer Genetics and Cytogenetics, 63, 81-88. [Erratum in Cancer Genetics and Cytogenetics, 66, 81, 1993.]
30. Nucifora, G., Dickstein, J.I., Torbenson, V., Roulston, V., Rowley, J. & Vardiman, J.W. (1994) Correlation between cell morphology and expression of the AML1/ETO chimeric transcript in patients with acute myeloid leukemia without the t(8;21). Leukemia, 8, 1533-1538.
31. Ogawa, E., Maruyama, M., Kagoshima, H., Inuzuka, M., Lu, J., Satake, M., Shigesada, K. & Ito, Y. (1993) PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene. Proceedings of the National Academy of Sciences of the United States of America, 90, 6859-6863.
32. Orazi, A., Kotylo, P. & Neiman, R.S. (1992) Acute leukemia with t(8;21) can express T-lineage-associated markers. (Letter; comment). Blood, 80, 1855-1856.
33. Paietta, E., Wiernik, P.H. & Andersen, J. (1993) Immunophenotypic features of t(8;21) (q22:q22) acute myeloid leukemia in adults. (Letter; comment). Blood, 81, 1975.
34. Poirel, H., Radford-Weiss, I., Rack, K., Troussard, X., Veil, A., Valensi, F., Picard, F., Guesnu, M., Lebœuf, D., Melle, J., Dreyfus, F., Flandrin, G. & Macintyre, E.A. (1995) Detection of the chromosome 16 CBFβ-MYH11 fusion transcript in myelomonocytic leukemias. Blood, 85, 1313-1322.
35. Raimondi, S.C., Kalwinsky, D.K., Hayashi, Y., Behm, F.G., Mirro, J.J. & Williams, D.L. (1989) Cytogenetics of childhood acute non-lymphocytic leukemia. Cancer Genetics and Cytogenetics, 40, 13-27.
36. Sacchi, N., Magnani, I., Kearney, L.T.W., Hagemeijer, A. & Darfler, M. (1995) Interphase cytogenetics of the t(8;21)(q22;q22) associated with acute myeloid leukemia by two-color fluorescence in situ hybridisation. Cancer Genetics and Cytogenetics, 79, 97.
37. Sakakura, C., Yamaguchi-Iwai, Y., Satake, M., Bae, S.C., Takahashi, A., Ogawa, E., Hagiwara, A., Takahashi, T., Murakami, A., Makino, K., Nakagawa, T., Kamada, N. & Ito, Y. (1994) Growth inhibition and induction of differentiation of t(8;21) acute myeloid leukemia cells by the DNA-binding domain of PEBP2 and the AML1/MTG8(ETO)-specific antisense oligonucleotide. Proceedings of the National Academy of Sciences of the United States of America, 91, 11725-11727.
38. Shimizu, K., Miyoshi, H., Kozu, T., Nagata, J., Enomoto, K., Maseki, N., Kaneko, Y. & Ohki, M. (1992) Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation. Cancer Research, 52, 6945-6948.
39. Swirsky, D.M., Li, Y.S., Matthews, J.G., Flemans, R.J., Rees, J.K.H. & Hayhoe, F.G.J. (1984) 8;21 translocation in acute granulocytic leukaemia: cytological, cytochemical and clinical features. British Journal of Haematology, 56, 199-213.
40. Tatsumi, E., Yoneda, N., Kawano, S., Yamaguchi, N., Yabe, H., Nagai, K. & Nakayama, S. (1992) Expression of CD7 antigen precludes t(8;21)(q22;q22) chromosome aberration in acute myeloblastic leukemia. (Letter; comment). Blood, 79, 3092-3093.
41. Tighe, J.E., Daga, A. & Calabi, F. (1993) Translocation breakpoints are clustered on both chromosome 8 and chromosome 21 in the t(8;21) of acute myeloid leukemia. Blood, 81, 592-596.
42. Trujillo, J.M., Cork, A., Ahearn, M.J., Youness, E.L. & McCredie, K.B. (1979) Hematologic and cytologic characterization of 8/21 translocation acute granulocytic leukemia. Blood, 53, 695-706.
43. van de Locht, L.T.F., Smetsers, T.F., Wittebol, S., Haymakers, R.A.P. & Mensink, E.J.B.M. (1994) Molecular diversity in AML1/ETO fusion transcripts in patients with t(8:21) positive acute myeloid leukemia. Leukemia, 8, 1780-1784.
44. Wang, S.W. & Speck, N.A. (1992) Purification of core-binding factor, a protein that binds the conserved core site in murine leukemia virus enhancers. Molecular and Cellular Biology. 12, 89-102.
45. Zhang, T., Hillion, J., Tong, J.H., Cao, Q., Chen, S.J., Berger, R. & Chen, Z. (1994) AML-1 gene rearrangement and AML-1-ETO gene expression as molecular markers of acute myeloblastic leukemia with t(8;21). Leukemia, 8, 729-734.
46. Zittoun, R., Mandelli, F., Willemze, R., De Witte, T., Labar, B., Resegotti, L., Leoni, F., Damasio, E., Visani, G., Papa, G., Caronia, F., Hayat, M., Stryckmans, P., Rotoli, B., Leoni, P., Peetermans, M., Dardenne, M., Luce Vegna, M., Concetta Petti, M., Solbu, G. & Suciu, S. (1995) Autologous or allogeneic bone marrow transplantation compared with intensive chemotherapy in acute myelogenous leukemia. New England Journal of Medicine, 332, 217-223.