455
Views
32
CrossRef citations to date
0
Altmetric
Review

Fluorescent in situ hybridization in the diagnosis, prognosis, and treatment monitoring of chronic myeloid leukemia

&
Pages 397-402 | Accepted 12 Sep 2005, Published online: 01 Jul 2009

References

  • Tefferi A M, Dewald G WP, Litzow M LM, Cortes J M, Mauro M JM, Talpaz M M, et al. Chronic myeloid leukemia: current application of cytogenetics and molecular testing for diagnosis and treatment. Mayo Clinic Proc 2005; 80: 390–402
  • Nowell P, Hungerford D. A minute chromosome in human chronic granulocytic leukemia. Science 1960; 132: 1497–1501
  • Goldman J. Monitoring minimal residual disease in BCR-ABL-positive chronic myeloid leukemia in the imatinib era. Curr Opin Hematol 2005; 12: 33–39
  • Dewald G W, Juneau A L, Schad C R, Tefferi A. Cytogenetic and molecular genetic methods for diagnosis and treatment response in chronic granulocytic leukemia. Cancer Genet Cytogenet 1997; 94: 59–66
  • Garcia-Manero G, Faderl S, O'Brien S, Cortes J, Talpaz M, et al. Chronic myelogenous leukemia: a review and update of therapeutic strategies. Cancer 2003; 98: 437–457
  • Kantarjian H M, Keating M J, Talpaz M, Walters R S, Smith T L, Cork A, et al. Chronic myelogenous leukemia in blast crisis. Analysis of 242 patients. Am J Med 1987; 83: 445–454
  • Chase A, Huntly B JP, Cross N CP. Cytogenetics of chronic myeloid leukaemia. Best Pract Res Clin Haematol 2001; 14: 553–571
  • Sokal J, Baccarani M, Russo D, Tura S. Staging and prognosis in chronic myelogenous leukemia. Semin Hematol 1988; 25: 49–61
  • Schiffer C A, Hehlmann R, Larson R. Perspectives on the treatment of chronic phase and advanced phase CML and Philadelphia chromosome positive ALL. Leukemia 2003; 17: 691–699
  • Cortes J, Kantarjian H. Advanced-phase chronic myeloid leukemia. Semin Hematol 2003; 40: 79–86
  • Calabretta B, Perrotti D. The biology of CML blast crisis. Blood 2004; 103: 4010–4022
  • Cortes J E, O'Brien S M, Giles F, Alvarez R H, Talpaz M, Kantarjian H M. Investigational strategies in chronic myelogenous leukemia. Hematol Oncol Clin North Am 2004; 18: 619–639
  • Goldman J M, Melo J V. Chronic myeloid leukemia–advances in biology and new approaches to treatment. N Engl J Med 2003; 349: 1451–1464
  • Rowley J D. Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973; 243: 290–293
  • Fialkow P J, Gartler S M, Yoshida A. Clonal origin of chronic myelocytic leukemia in man. Proc Natl Acad Sci USA 1967; 58: 1468–1471
  • de Klein A, van Kessel A G, Grosveld G, Bartram C R, Hagemeijer A, Bootsma D, et al. A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1982; 300: 765–767
  • Heisterkamp N, Stam K, Groffen J, de Klein A, Grosveld G. Structural organization of the bcr gene and its role in the Ph’ translocation. Nature 1985; 315: 758–761
  • Stam K, Heisterkamp N, Grosveld G, de Klein A, Verma R S, Coleman M, et al. Evidence of a new chimeric bcr/c-abl mRNA in patients with chronic myelocytic leukemia and the Philadelphia chromosome. N Engl J Med 1985; 313: 1429–1433
  • Ben-Neriah Y, Daley G Q, Mes-Masson A M, Witte O N, Baltimore D. The chronic myelogenous leukemia-specific P210 protein is the product of the bcr/abl hybrid gene. Science 1986; 233: 212–214
  • Lugo T G, Pendergast A M, Muller A J, Witte O N. Tyrosine kinase activity and transformation potency of bcr-abl oncogene products. Science 1990; 247: 1079–1082
  • Kelliher M A, McLaughlin J, Witte O N, Rosenberg N. Induction of a chronic myelogenous leukemia-like syndrome in mice with v-abl and BCR/ABL. Proc Natl Acad Sci USA 1990; 87: 6649–6653
  • Daley G Q, Van Etten R A, Baltimore D. Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. Science 1990; 247: 824–830
  • Sattler M, Salgia R, Okuda K, Uemura N, Durstin M A, Pisick E, et al. The proto-oncogene product p120CBL and the adaptor proteins CRKL and c-CRK link c-ABL, p190BCR/ABL and p210BCR/ABL to the phosphatidylinositol-3′ kinase pathway. Oncogene 1996; 12: 839–846
  • Lesser M L, Dewald G W, Sison C P, Silver R T. Correlation of three methods of measuring cytogenetic response in chronic myelocytic leukemia. Cancer Genet Cytogenet 2002; 137: 79–84
  • Buno I, Wyatt W A, Zinsmeister A R, Dietz-Band J, Silver R T, Dewald G W. A special fluorescent in situ hybridization technique to study peripheral blood and assess the effectiveness of interferon therapy in chronic myeloid leukemia. Blood 1998; 92: 2315–2321
  • Sinclair P B, Green A R, Grace C, Nacheva E P. Improved sensitivity of BCR-ABL detection: a triple-probe three-color fluorescence in situ hybridization system. Blood 1997; 90: 1395–1402
  • Cuneo A, Bigoni R, Emmanuel B, Smit E, Rigolin G, Roberti M, et al. Fluorescence in situ hybridization for the detection and monitoring of the Ph-positive clone in chronic myelogenous leukemia: comparison with metaphase banding analysis. Leukemia 1998; 12: 1718–1723
  • Cox-Froncillo M C, Cantonetti M, Masi M, Lentini R, Giudiceandrea P, Maffei L, et al. Cytogenetic analysis is non-informative for assessing the remission rate in chronic myeloid leukemia (CML) patients on interferon-alpha (IFN-alpha) therapy. Cancer Genet Cytogenet 1995; 84: 15–18
  • Tkachuk D, Westbrook C, Donlon T, Cleary M, Suryanarayan K, Homge M, et al. Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization. Science 1990; 250: 559–562
  • Dewald G W, Schad C R, Christensen E R, Tiede A L, Zinsmeister A R, Spurbeck J L, et al. The application of fluorescent in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL. Cancer Genet Cytogenet 1993; 71: 7–14
  • Chase A, Grand F, Zhang J -G, Blackett N, Goldman J, Gordon M. Factors influencing the false positive and negative rates of BCR-ABL fluorescence in situ hybridization. Genes Chrom Cancer 1997; 18: 246–253
  • Dewald G W, Wyatt W A, Juneau A L, Carlson R O, Zinsmeister A R, Jalal S M, et al. Highly sensitive fluorescence in situ hybridization method to detect double BCR/ABL fusion and monitor response to therapy in chronic myeloid leukemia. Blood 1998; 91: 3357–3365
  • Seong D, Kantarjian H, Ro J, Talpaz M, Xu J, Robinson J, et al. Hypermetaphase fluorescence in situ hybridization for quantitative monitoring of Philadelphia chromosome-positive cells in patients with chronic myelogenous leukemia during treatment. Blood 1995; 86: 2343–2349
  • Amare P S, Baisane C, Saikia T, Nair R, Gawade H, Advani S. Fluorescence in situ hybridization: a highly efficient technique of molecular diagnosis and predication for disease course in patients with myeloid leukemias. Cancer Genet Cytogenet 2001; 131: 125–134
  • Kantarjian H M, Bueso-Ramos C E, Talpaz M, O'Brien S, Giles F, Faderl S, et al. Significance of myelofibrosis in early chronic-phase, chronic myelogenous leukemia on imatinib mesylate therapy. Cancer 2005; 104: 777–780
  • Kantarjian H M, Bueso-Ramos C E, Talpaz M, O'Brien S, Giles F, Rios M B, et al. The degree of bone marrow fibrosis in chronic myelogenous leukemia is not a prognostic factor with imatinib mesylate therapy. Leuk Lymphoma 2005; 46: 993–997
  • Vardiman J W, Brunning R D, Harris N L. WHO histological classification of chronic myeloproliferative diseases. World Health Organization Classification of Tumors: Tumors of the Haematopoietic and Lymphoid Tissues, E S Jaffe, N L Harris, H Stein, J W Vardiman. International Agency for Research on Cancer (IARC) Press, Lyon 2001
  • Hasford J, Pfirrmann M, Hehlmann R, Baccarani M, Guilhot F, Mahon F X, et al. Prognosis and prognostic factors for patients with chronic myeloid leukemia: nontransplant therapy. Semin Hematol 2003; 40: 4–12
  • Sokal J E, Cox E B, Baccarani M, Tura S, Gomez G A, Robertson J E, et al. Prognostic discrimination in ‘good-risk’ chronic granulocytic leukemia. Blood 1984; 63: 789–799
  • Hasford J, Pfirrmann M, Hehlmann R, Allan N C, Baccarani M, Kluin-Nelemans J C, et al. A new prognostic score for survival of patients with chronic myeloid leukemia treated with interferon alfa. Writing Committee for the Collaborative CML Prognostic Factors Project Group. J Natl Cancer Inst 1998; 90: 850–858
  • Sokal J E, Gomez G A, Baccarani M, Tura S, Clarkson B D, Cervantes F, et al. Prognostic significance of additional cytogenetic abnormalities at diagnosis of Philadelphia chromosome-positive chronic granulocytic leukemia. Blood 1988; 72: 294–298
  • Werner M, Kaloutsi V, Buhr T, Delventhal S, Vykoupil K F, Georgii A. Cytogenetics of chronic myelogenous leukemia (CML) correlated to the histopathology of bone marrow biopsies. Ann Hematol 1991; 63: 201–205
  • Lundan T, Volin L, Ruutu T, Knuutila S, Porkka K. Allogeneic stem cell transplantation reverses the poor prognosis of CML patients with deletions in derivative chromosome 9. Leukemia 2005; 19: 138–140
  • Sinclair P B, Nacheva E P, Leversha M, Telford N, Chang J, Reid A, et al. Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia. Blood 2000; 95: 738–743
  • Huntly B JP, Reid A G, Bench A J, Campbell L J, Telford N, Shepherd P, et al. Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia. Blood 2001; 98: 1732–1738
  • Huntly B JP, Bench A J, Delabesse E, Reid A G, Li J, Scott M A, et al. Derivative chromosome 9 deletions in chronic myeloid leukemia: poor prognosis is not associated with loss of ABL-BCR expression, elevated BCR-ABL levels, or karyotypic instability. Blood 2002; 99: 4547–4553
  • Specchia G, Albano F, Anelli L, Storlazzi C T, Zagaria A, Liso A, et al. Derivative chromosome 9 deletions in chronic myeloid leukemia are associated with loss of tumor suppressor genes. Leuk Lymphoma 2004; 45: 689–694
  • Kolomietz E, Al-Maghrabi J, Brennan S, Karaskova J, Minkin S, Lipton J, et al. Primary chromosomal rearrangements of leukemia are frequently accompanied by extensive submicroscopic deletions and may lead to altered prognosis. Blood 2001; 97: 3581–3588
  • Storlazzi C T, Specchia G, Anelli L, Albano F, Pastore D, Zagaria A, et al. Breakpoint characterization of der(9) deletions in chronic myeloid leukemia patients. Genes Chrom Cancer 2002; 35: 271–276
  • Cohen N, Rozenfeld-Granot G, Hardan I, Brok-Simoni F, Amariglio N, Rechavi G, et al. Subgroup of patients with Philadelphia-positive chronic myelogenous leukemia characterized by a deletion of 9q proximal to ABL gene: expression profiling, resistance to interferon therapy, and poor prognosis. Cancer Genet Cytogenet 2001; 128: 114–119
  • Yoong Y, Van DeWalker T J, Carlson R O, Dewald G W, Tefferi A. Clinical correlates of submicroscopic deletions involving the ABL-BCR translocation region in chronic myeloid leukemia. Eur J Haematol 2005; 74: 124–127
  • Quintas-Cardama A, Kantarjian H, Talpaz M, O'Brien S, Garcia-Manero G, Verstovsek S, et al. Imatinib mesylate therapy may overcome the poor prognostic significance of deletions of derivative chromosome 9 in patients with chronic myelogenous leukemia. Blood 2005; 105: 2281–2286
  • Frater J, Tallman M, Variakojis D, Druker B, Resta D, Riley M, et al. Chronic myeloid leukemia following therapy with imatinib mesylate (Gleevec). Bone marrow histopathology and correlation with genetic status. Am J Clin Pathol 2003; 119: 833–841
  • Tchirkov A, Giollant M, Tavernier F, BrianCon G, Tournilhac O, Kwiatkowski F, et al. Interphase cytogenetics and competitive RT-PCR for residual disease monitoring in patients with chronic myeloid leukaemia during interferon- therapy. Br J Haematol 1998; 101: 552–557
  • Douet-Guilbert N, Morel F, Le Charpentier T, Le Bris M J, Herry A, Morice P, et al. Interphase FISH for follow-up of Philadelphia chromosome-positive chronic myeloid leukemia treatment. Anticancer Res 2004; 24: 2535–2539
  • Muhlmann J, Thaler J, Hilbe W, Bechter O, Erdel M, Utermann G, et al. Fluorescence in situ hybridization (FISH) on peripheral blood smears for monitoring Philadelphia chromosome-positive chronic myeloid leukemia (CML) during interferon treatment: a new strategy for remission assessment. Genes Chrom Cancer 1998; 21: 90–100
  • Bornhauser M, Mohr B, Ehrenlechner U, Neubauer A, Ehninger G. Fluorescence in situ hybridization for the BCR/ABL rearrangement is dependent on the percentage of nonlymphocytic cells in peripheral blood stem cell harvests. J Hematother 1998; 7: 425–430
  • Kim Y J, Kim D W, Lee S, Kim H J, Kim Y L, Hwang J Y, et al. Comprehensive comparison of FISH, RT-PCR, and RQ-PCR for monitoring the BCR-ABL gene after hematopoietic stem cell transplantation in CML. Eur J Haematol 2002; 68: 272–280
  • Raanani P, Ben-Bassat I, Gan S, Trakhtenbrot L, Mark Z, Ashur-Fabian O, et al. Assessment of the response to imatinib in chronic myeloid leukemia patients – comparison between the FISH, multiplex and RT-PCR methods. Eur J Haematol 2004; 73: 243–250
  • Kantarjian H M, Talpaz M, Cortes J, O'Brien S, Faderl S, Thomas D, et al. Quantitative polymerase chain reaction monitoring of BCR-ABL during therapy with imatinib mesylate (STI571; gleevec) in chronic-phase chronic myelogenous leukemia. Clin Cancer Res 2003; 9: 160–166
  • Radich J P, Gehly G, Gooley T, Bryant E, Clift R A, Collins S, et al. Polymerase chain reaction detection of the BCR-ABL fusion transcript after allogeneic marrow transplantation for chronic myeloid leukemia: results and implications in 346 patients. Blood 1995; 85: 2632–2638
  • Lin F, Goldman J M, Cross N C. A comparison of the sensitivity of blood and bone marrow for the detection of minimal residual disease in chronic myeloid leukaemia. Br J Haematol 1994; 86: 683–685
  • Branford S, Hughes T P, Rudzki Z. Monitoring chronic myeloid leukaemia therapy by real-time quantitative PCR in blood is a reliable alternative to bone marrow cytogenetics. Br J Haematol 1999; 107: 587–599
  • Hughes T P, Kaeda J, Branford S, Rudzki Z, Hochhaus A, Hensley M L, et al. Frequency of major molecular responses to imatinib or interferon alfa plus cytarabine in newly diagnosed chronic myeloid leukemia. N Engl J Med 2003; 349: 1423–1432
  • Dewald G W, Wyatt W A, Juneau A L, Carlson R O, Zinsmeister A R, Jalal S M, et al. Highly sensitive fluorescence in situ hybridization method to detect double BCR/ABL fusion and monitor response to therapy in chronic myeloid leukemia. Blood 1998; 91: 3357–3365

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.