Abstract
Prior to the early 1970s, chromosome spreads were block stained with, for example, orcein or Fulgen’s stains, and only those with a distinctive outline could be recognized. Then it was discovered that chromosomes could be made to show a consistent pattern of lighter or darker stained segments (bands) by using fluorescent dyes (fluorochromes) such as atebrin and quinecrine, or by treatment with agents such as trypsin, detergent, or a salt solution (e.g., saline sodium citrate), followed by staining with basic nuclear dyes such as Giemsa, Wright’s, or Leishman’s stain. Once every chromosome could be identified by its unique banding pattern, and recurrent abnormalities could be associated with specific diseases or physical disorders, the science of cytogenetics quickly proved to have direct and practical clinical applications. The chromosomes obtained in studies of malignancy, however, are often of poor morphology, and tend to be involved in complex and subtle rearrangements; in such cases, conventional cytogenetic studies are unable to define fully the entire karyotype. This limitation has been overcome by the introduction of new techniques, known as in situ hybridization (ISH), which bind labeled DNA to specific parts of the chromosomes being studied.
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References
Bentz, M., Dohner, H., Cabot, G., and Lichter, P. (1994) Fluorescence in situ hybridisation in leukemia. The FISH are “spawning.” Leukemia 8, 1447–1452.
Berger, R. (1995) Recent advances in fluorescence in situ hybridisation (FISH) in hematology. Pathol. Biol. 43, 175–180.
Hiorns, L. R., Swansbury G. J., and Catovsky D. (1995) An eightway variant t(15;17) in acute promyelocytic leukemia elucidated using fluorescence in situ hybridization. Cancer Genet.Cytogenet., 83, 136–139.
Saitoh, K., Miura, I., Ohshima, A., et al. (1997) Translocation t(8;12;21)(q22.1;q24.1;q22.1): a new masked type of t(8;21)(q22;q22) in a patient with acute myeloid leukemia. Cancer Genet. Cytogenet. 96, 111–114.
Jadayel, D., Calabrese, G., Min, T., et al. (1995) Molecular cytogenetics of chronic myeloid leukemia with atypical t(6;9)(p23;q34) translocation. Leukemia 9, 981–987.
Speicher, M. R., Ballard, S. G., and Ward, D. C. (1996). Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat. Genet. 12, 368–375.
Secker-Walker, L. M., Prentice, H. G., Durrant, J., Richard, S., Hall, E., and Harrison, G. (1997) Cytogenetics adds independent prognostic information in adults with acute lymphoblastic leukemia on MRC trial UKALL XA. Br. J. Haematol. 96, 601–610.
Pui, C-H., Rebeiro, R. C., Campana, D., et al. (1996) Prognostic factors in acute lymphoid and acute myeloid leukemias in infants. Leukemia 10, 952–956.
Ritterbach, J., Hiddemann, W., Beck, J. D., et al. (1998) Detection of hyperdiploid karyotypes (>50 chromosomes) in childhood acute lymphoblastic leukemia (ALL) using fluorescence in situ hybridization (FISH). Leukemia 12, 427–433.
Mertens, F., Johansson, B., and Mitelman, F (1996) Dichotomy of hyperdiploid acute lymphoblastic leukemia on the basis of the distribution of gained chromosomes. Cancer Genet. Cytogenet. 92, 8–10.
Zhao, L., Khan, Z., Hayes, K. J., and Glassman, A. B. (1998) Interphase fluorescence in situ hybridization analysis: A study using centromeric probes 7, 8, and 12. Ann. Clin. Lab. Sci. 28, 51–56.
Matutes, E. (1996) Trisomy 12 in chronic lymphocytic leukemia. Leukemia Res. 5, 375–377.
Kolluri, R. V., Manueldis, L., Cremer, T., Sait, S., Gezer, S., and Raza, A. (1990) Detection of monosomy 7 in interphase cells of patients with myeloid disorders. Am. J. Hematol. 33, 117–122.
Baurmann, H., Cherif, D., and Berger, R. (1993) Interphase cytogenetics by fluorescence in situ hybridization (FISH) for the characterization of monosomy-7-associated myeloid disorders. Leukemia 7, 384–391.
Cotter, F. E. and Johnson, E. (1997) Chromosome 7 and hematological malignancies. Hematology 2, 359–372.
Wyandt, H. E., Chinnappan, D., Ioannidou, S., Salama, M., and O’Hara, C. (1998) Fluorescence in situ hybridization to assess aneuploidy for chromosomes 7 and 8 in hematologic disorders. Cancer Genet. Cytogenet. 102, 114–124.
Grimwade, D., Walker, H., Oliver, F., et al. (1998) The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. Blood, 92, 2322–2333.
Tkachuk, D., Westbrook, C., Andreeff, M., et al. (1990) Detection of BCR-ABL fusion in chronic myelogenous leukemia by two-color fluorescence in situ hybridization. Science 250, 559–562.
Werner, M., Ewig, M., Nasarek, A., et al. (1998) Value of fluorescence in situ hybridization for detecting the bcr/abl gene fusion in interphase cells of routine bone marrow specimens. Diagn. Mol. Pathol. 6, 282–287.
Dohner, H. (1994) Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization. Blood 83, 1922–1928.
Romana, S. P., Mauchauffe, M., Le Coniat, M., et al. (1995) The t(12;21) of acute lymphoblastic leukemia results in TEL-AML1 gene fusion. Blood 85, 3662–3670.
Romana, S. P., Le Coniat, M., and Berger, R. (1994). t(12;21): A new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer 9, 186–191.
Shurtleff, S. A., Buijs, A., Behm, F. G., et al. (1995) TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis Leukemia 9, 1985–1989.
Wiemels, J. L. and Greaves, M. (1999) Structure and possible mechanisms of childhood acute lymphoblastic leukemia. Cancer Res. 59, 4075–4082.
Loncarevic, I. F., Roitzheim, B., Ritterbach, J., et al. (1999) Trisomy 21 is a recurrent secondary aberration in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion. Genes Chromosomes Cancer 24, 272–277.
Sorenson, P. H. B., Chen, C-S., Smith, F. O., et al. (1994) Molecular rearrangements of the MLL genes are present in most cases of infant acute myeloid leukemia and are strongly correlated with monocytic or myelomonocytic phenotypes. J. Clin Invest. 93, 429–437.
Chen, C-S., Sorenson, P. H. B., Domer, P. H., et al. (1993) Molecular rearrangements of 11q23 predominate in infant acute lymphoblastic leukemia and are associated with specific biological variables and poor outcome. Blood 81, 2386–2393.
Swansbury, G. J., Slater, R., Bain, B. J., Moorman, A. V., and Secker-Walker L. M. (1998) Hematological malignancies with t(9;11)(p21–22;q23)—a laboratory and clinical study of 125 cases. Leukemia 12, 792–800.
Heinonen, K., Mrozek, K., Lawrence, D., et al. (1998) Clinical characteristics of patients with de novo acute myeloid leukemia and Isolated trisomy 11: a Cancer and Leukemia Group B study. Br. J. Haematol. 101, 513–520.
Pui, C-H., Behm, F. G., Raimondi, S. C., et al. (1989) Secondary acute myeloid leukemia in children treated for acute lymphoid leukemia. New Engl. J. Med., 321, 136–142.
Gill Super, H. J., McCabe, R., Thirman, M. J., et al. (1993) Rearrangement of the MLL gene in therapy-related acute myeloid leukemia in patients previously treated with agents targeting DNA-topoisomerase II. Blood 82, 3705–3711.
Cimino, C., Rapanotti, M. C., Sprovieri, T., and Elia, L. (1998) ALL1 gene alterations in acute leukemia: biological and clinical aspects. Hematologica 83, 350–357.
Kolomietz, E., Al-Maghrabi, J., Brennan, S., et al. (2001) Primary chromosomal rearrangements of leukemia are frequently accompanied by extensive submicroscopic deletions and may lead to altered prognosis. Blood 97, 3581–3588.
Caligiuri, M. A., Strout, M. P., Oberkircher, A. R., Yu, F., De La Chapelle, A., and Bloomfield, C. D. (1997). Partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics of trisomy 11 is restricted to one chromosome. Proc. Natl. Acad. Sci. USA 94, 3899–3902.
Caligiuri, M. A., Strout, M. P., Lawrence, D., et al. (1998) Rearrangement of ALL1 (MLL) in acute leukemia with normal cytogenetics. Cancer Res. 58, 55–59.
Kearney, L. (2000) The impact of the new FISH technologies on the cytogenetics of hematological malignancies. Br. J. Haematol. 104, 648–658.
Parra I., and Windle B. (1993) High-resolution visual mapping of stretched DNA by fluorescent hybridization. Nat. Genet. 5, 17–21.
Pellestor, F., Girardet, A., Andreo, B., and Charlieu, J. (1994) A polymorphic alpha satellite sequence for human chromosome 13 detected by oligonucleotide primed in situ labelling (PRINS). Hum. Genet. 94, 346–348.
Soenen, V., Fenaux, P., Flactif, M., et al. (1995) Combined immunophenotyping and in situ hybridization (FICTION)—a rapid method to study cell lineage involvement in myelodysplastic disorder. Br. J. Haematol. 90, 701–706.
Dewald, G. W., Stallard, R., Alsaadi, A., et al. (2000) A multicenter investigation with d-FISH BCR/ABL1 probes. Cancer Genet. Cytogenet. 116, 97–104.
Schad, C. R. and Dewald, G. W. (1995) Building a New Clinical Test for Fluorescence in situ hybridization. Appl. Cytogenet. 21, 1–4.
Drach, J., Roka, S., Ackermann, J., Zojer, N., Schuster, R., and Fliegl, M. (1997). Fluorescence in situ hybridization: laboratory requirements and quality control. Lab. Med. 21, 683–685.
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Min, T., Swansbury, J. (2003). Cytogenetic Studies Using FISH. In: Swansbury, J. (eds) Cancer Cytogenetics. Methods in Molecular Biology™, vol 220. Humana Press. https://doi.org/10.1385/1-59259-363-1:173
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DOI: https://doi.org/10.1385/1-59259-363-1:173
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