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Molecular Diagnosis of Acute Myeloid Leukemia with Maturation, FAB-Type M2

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Molecular Diagnosis of Cancer

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 6))

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Abstract

Nonrandom chromosome abnormalities frequently are seen in particular subtypes of human leukemia and lymphoma. These abnormalities are considered to be involved in the neoplastic transformation and in tumor progression. The translocation (8;21) (q22;q22) is consistently associated with acute myeloid leukemia with maturation (French-American-British classification subtype M2; AML-M2). It accounts for 40% of pediatric type AML-M2 Molecular cloning of the chromosome 8–21 translocation breakpoint showed clustering on chromosome 21 within a limited region in the AML1 gene and on chromosome 8 within a limited region in the ETO gene (Eight Twenty One) also called MTG8 (Myeloid Translocation Gene on chromosome 8) (17). The t(8;21) results in a chimerical AML1/ETO gene on the der(8) chromosome. Rearrangement of AML1 was also detected in a patient with 8q- and only one chromosome 21, but without 21q+. This indicates that the molecular events on the der(8) chromosome leading to the chimerical AML1/ETO gene are more important than the events on the reciprocal 21q+ chromosome (8).

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References

  1. Erickson, P., Gao, J., Chang, K.-S., Look, T, Whisenant, E., Raimondi, S., Lasher, R., Trujillo, J, Rowley, J, and Drabkin, H. (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

    PubMed  CAS  Google Scholar 

  2. Nisson, P E., Watkins, P C, and Sacchi, N (1992) Transciptionally 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 Genet Cytogenet 63, 81–88

    Article  PubMed  CAS  Google Scholar 

  3. Shimizu, K, Miyoshi, H., Kuzy, T, Nagata, J., Enomoto, K., Maseki, N., Kankeo, Y., and Ohki, M (1992) Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation, Cancer Rex 52, 6945–6948

    CAS  Google Scholar 

  4. KOZU, T., Miyoshi, H, Shimizu, K., Maseki, N, Kaneko, Y, Asou, H., Kamada, N, and Ohki, M (1993) Junctions of the AML1/MTG8(ETO) fusion are constant in t(8;21) acute myelord leukemia detected by reverse transcription polymerase chain reaction, Blood 82, 1270–1276.

    PubMed  CAS  Google Scholar 

  5. Miyoshi, H., Shimizu, K., Kozu, T, Maseki, N., Kaneko, Y, and 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. Proc. Natl. Acad Sci USA 88, 10431–10434

    Article  PubMed  CAS  Google Scholar 

  6. Tighe, J. E., Daga, A., and 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.

    PubMed  CAS  Google Scholar 

  7. Nucifora, G., Birn, D. J., Erickson, P., Gao, J., LeBeau, M M, Drabkin, H. A., and Rowley, J. D (1993) Detection of DNA rearrangements in the AML1 and ETO loci and of an AML1/ETO fusion mRNA in patients with t(8;21) acute myeloid leukemia. Blood 81, 883–888

    PubMed  CAS  Google Scholar 

  8. Zhang, T., Hillion, J., Tong, J.-H., Cao, Q., Chen, S.-J, Berger, R., and Chen, Z. (1994) AML1 Gene rearrangement and AML-l-ETO Gene expression as molecular markers of Acute myeloid leukemia with t(8;21), Leukemza 8(5), 729–734.

    CAS  Google Scholar 

  9. Chang, K.-S., Fan, Y.-H., Stass, S. A, Estey, E. H., Wang, G., Trujillo, J M., Erickson, P., and Drabkin, H (1993) Expression of AML1-ETO fusion transcripts and detection of minimal residual disease in t(8,21)-positive acute myeloid leukemia. Oncogene 8, 983–988

    PubMed  CAS  Google Scholar 

  10. Nucifora, G., Birn, D J, Espinosa, R., Erickson, P., LeBeau, M, Roulston, D, McKeithan, T. W., Drabkin, H, and Rowley, J D. (1993) Involvement of AML1 gene in the t(3,21) in therapy-related leukemia and in chronic myeloid leukemia in blast crisis. Blood 81, 2728–2734

    PubMed  CAS  Google Scholar 

  11. Mitani, K., Ogawa, S., Tanaka, T., Miyoshi, H., Kurokawa, M., Mano, H., Yazaki, Y., Ohki, M, and Hirai, H (1994) Generation of the AML1-EVI-1 fusion gene in the t(3;21) (q26;q22) causes blastic crisis in chronic myelocytic leukemia. EMBO J 13, 504–510.

    PubMed  CAS  Google Scholar 

  12. Meyers, S., Downing, J. R., and Hiebert, S. W. (1993) Identification of AML-1 and the (8;21) translocation protein (AML-l/ETO) as sequence specific DNA binding proteins: the RUNT homology domain is required for DNA binding and protein-protein interaction Mol Cell Biol. 13, 6336–6345

    PubMed  CAS  Google Scholar 

  13. Asou, H, Tashiro, S., Hamamoto, K., Otsuji, A., Kita, K., and Kamada, N (1991) Establishment of a human acute myeloid leukemia cell line (Kasumi-1) with 8,21 chromosome translocation Blood 77, 2031–2036

    PubMed  CAS  Google Scholar 

  14. Downing, J. R., Head, D. R., Curcio-Brint, A. M., Hulshof, M. G., Motroni, T A., Raimondi, S. C., Carroll, A. J., Drabkin, H. A., Willman, C., Theil, K S, Civin, I, and Erickson, P. (1993) An AML1/ETO Fusion transcript is consistently detected by RNA-based polymerase chain reaction in acrute myelogenous leukemia containg the (8;21) (q22;q22) translocation. Blood 81(11), 2860–2865.

    PubMed  CAS  Google Scholar 

  15. Maruyama, F., Stass, S. A., Estey, E. H., Cork, A., Masami, H., Ino, T., Freireich, E. J, Yang, P., and Chang, K.-S. (1994) Detection of AML1/ETO fusion transcript as a tool for diagnosing t(8;21) positive acute myeloid leukemia. Leukemia 8(l), 40–45.

    PubMed  CAS  Google Scholar 

  16. Maruyama, F., Yang, P., Stass, S., Cork, A., Freirich, E., Lee, M., and Chang, K. (1993) Detection of the AML1/ETO fusion transcript in the t(8;21) masked translocation in acute myelogenous leukemia. Cancer Research 53, 4449–4451.

    PubMed  CAS  Google Scholar 

  17. van de Locht, L.T. F., Smetsers, T. F. C. M., Wittebol, S., Raymakers, R. A. P., and 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(10), 1780–1784

    PubMed  Google Scholar 

  18. Puissant, C and Houdebme, L. M. (1990) An improvement of the single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chlorophorm extraction Biotechniques 8, 148–149

    Article  PubMed  CAS  Google Scholar 

  19. Maseki, N., Miyoshi, H., Shimizu, K., Homma, C., Ohki, M., Sakurai, M., and Kaneko, Y. (1993) The 8,21 chromosome translocation in acute myeloid leukemia is always detectable by molecular analysis using AML1. Blood 81(6), 1573–1579.

    PubMed  CAS  Google Scholar 

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© 1996 Humana Press Inc., Totowa, NJ

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Mensink, E.J.B.M., van de Locht, L.T.F. (1996). Molecular Diagnosis of Acute Myeloid Leukemia with Maturation, FAB-Type M2. In: Cotter, F.E. (eds) Molecular Diagnosis of Cancer. Methods in Molecular Medicine™, vol 6. Humana Press. https://doi.org/10.1385/0-89603-341-4:37

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  • DOI: https://doi.org/10.1385/0-89603-341-4:37

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-341-2

  • Online ISBN: 978-1-59259-590-7

  • eBook Packages: Springer Protocols

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