Karyotyping, FISH, and PCR in acute lymphoblastic leukemia: Competing or complementary diagnostics?

Journal of Pediatric Hematology/Oncology

Volumn 31, Issue 12, 2009, Pages 930-935

  Nordkamp, Louise Olde ^a   Mellink, Clemens ^a   Van Der Schoot, Ellen ^b   Van Den Berg, Henk ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Academic Medical Center ^*  (Netherlands)

Author keywords

Acute lymphoblastic leukemia; Cytogenetics; FISH; Karyotyping; RQ PCR

Indexed keywords

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ARTICLE; CANCER CYTODIAGNOSIS; CANCER DIAGNOSIS; CHILD; CHILDHOOD LEUKEMIA; CHROMOSOME ABERRATION; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; EVENT FREE SURVIVAL; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; COMPARATIVE STUDY; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETICS; INFANT; METHODOLOGY; NEWBORN; PRESCHOOL CHILD;

MIXED LINEAGE LEUKEMIA PROTEIN; MLL AF4 FUSION PROTEIN, HUMAN; MLL-AF4 FUSION PROTEIN, HUMAN; ONCOPROTEIN; TEL AML1 FUSION PROTEIN; TEL-AML1 FUSION PROTEIN; TRANSCRIPTION FACTOR RUNX1;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CORE BINDING FACTOR ALPHA 2 SUBUNIT; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MYELOID-LYMPHOID LEUKEMIA PROTEIN; ONCOGENE PROTEINS, FUSION; POLYMERASE CHAIN REACTION; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; RETROSPECTIVE STUDIES; TRANSLOCATION, GENETIC;

EID: 73949159219     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181bc9c85     Document Type: Article

References (32)

1. Coebergh JW, Reedijk AM, de VE, et al. Leukemia incidence and survival in children and adolescents in Europe during 1978-1997. Report from the Automated Childhood Cancer Information System project. Eur J Cancer. 2006;42:2019-2036.
2. Secker-Walker LM, Lawler SD, Hardisty RM. Prognostic implications of chromosomal findings in acute lymphoblastic leukemia at diagnosis. Br Med J. 1978;2:1529-1530.
3. Pui CH, Evans WE. Treatment of acute lymphoblastic leukemia. N Engl J Med. 2006;354:166-178.
4. Rooney D, Czepulkowski B. Human Chromosome Preparation: Essential Techniques. Chichester, UK: John Wiley & Sons Ltd; 1997.
5. Schwarzacher T, Harrison G, Heslop-Harrison P. Practical In Situ Hybridization. Abingdon, UK: BIOS Scientific Publishers Ltd; 2000.
6. Gabert J, Beillard E, van der Velden VH, et al. Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-a Europe Against Cancer program. Leukemia. 2003;17:2318-2357.
7. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics. 1977;33:159-174.
8. Romana SP, Le Coniat M, Berger R. t(12;21): a new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer. 1994;9:186-191.
9. Harrison CJ. The genetics of childhood acute lymphoblastic leukemia. Baillieres Best Pract Res Clin Haematol. 2000;13: 427-439.
10. Douet-Guilbert N, Morel F, Le Bris MJ, et al. A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984-2001). Cancer Genet Cytogenet. 2003;144:143-147.
11. Woo HY, Kim DW, Park H, et al. Molecular cytogenetic analysis of gene rearrangements in childhood acute lymphoblastic leukemia. J Korean Med Sci. 2005;20:36-41.
12. Zhang L, Parkhurst JB, Kern WF, et al. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia. Chin Med J (Engl). 2003;116:1298-1303.
13. Strehl S, Konig M, Mann G, et al. Multiplex reverse transcriptase- polymerase chain reaction screening in childhood acute myeloblastic leukemia. Blood. 2001;97:805-808.
14. Harrison CJ. The detection and significance of chromosomal abnormalities in childhood acute lymphoblastic leukemia. Blood Rev. 2001;15:49-59.
15. Karhu R, Siitonen S, Tanner M, et al. Genetic aberrations in pediatric acute lymphoblastic leukemia by comparative genomic hybridization. Cancer Genet Cytogenet. 1997;95:123-129.
16. Ramos ML, Palacios JJ, Fournier BG, et al. Prognostic value of tumoral ploidy in a series of spanish patients with acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2000;122: 124-130.
17. Taki T, Ida K, Bessho F, et al. Frequency and clinical significance of the MLL gene rearrangements in infant acute leukemia. Leukemia. 1996;10:1303-1307.
18. Borkhardt A, Wuchter C, Viehmann S, et al. Infant acute lymphoblastic leukemia-combined cytogenetic, immunophenotypical and molecular analysis of 77 cases. Leukemia. 2002;16: 1685-1690.
19. Martin Ramos M, Fernandez Martinez F, Barreiro Miranda E. Cytogenetic abnormalities in acute lymphoblastic leukemia. An Esp Pediatr. 2001;55:45-52.
20. Harrison CJ, Moorman AV, Barber KE, et al. Interphase molecular cytogenetic screening for chromosomal abnormalities of prognostic significance in childhood acute lymphoblastic leukemia: a UK Cancer Cytogenetics Group Study. Br J Haematol. 2005;129:520-530.
21. Cimino G, Rapanotti MC, Rivolta A, et al. Prognostic relevance of ALL-1 gene rearrangement in infant acute leukemias. Leukemia. 1995;9:391-395.
22. Cuthbert G, Thompson K, Breese G, et al. Sensitivity of FISH in detection of MLL translocations. Genes Chromosomes Cancer. 2000;29:180-185.
23. Tkachuk DC, Westbrook CA, Andreeff M, et al. Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization. Science. 1990;250:559-562.
24. Martinez-Ramirez A, Urioste M, Contra T, et al. Fluorescence in situ hybridization study of TEL/AML1 fusion and other abnormalities involving TEL and AML1 genes. Correlation with cytogenetic findings and prognostic value in children with acute lymphocytic leukemia. Haematologica. 2001;86: 1245-1253.
25. Stams WAG, Beverloo HB, den Boer ML, et al. Incidence of additional genetic changes in the TEL and AML1 genes in DCOG and COALL-treated t(12;21)-positive pediatric ALL, and their relation with drug sensitivity and clinical outcome. Leukemia. 2006;20:410-416.
26. Cox MC, Maffei L, Buffolino S, et al. A comparative analysis of FISH, RT-PCR, and cytogenetics for the diagnosis of bcrabl-positive leukemias. Am J Clin Pathol. 1998;109:24-31.
27. van Dongen JJ, Macintyre EA, Gabert JA , et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia. 1999;13:1901-1928.
28. Pallisgaard N, Hokland P, Riishoj DC , et al. Multiplex reverse transcription-polymerase chain reaction for simultaneous screening of 29 translocations and chromosomal aberrations in acute leukemia. Blood. 1998;92:574-588.
29. Bench AJ, Erber WN, Scott MA. Molecular genetic analysis of hematological malignancies: I. Acute leukemias and myeloproliferative disorders. Clin Lab Haematol. 2005;27:148-171.
30. Salto-Tellez M, Shelat SG, Benoit B, et al. Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practice. J Mol Diagn. 2003;5:231-236.
31. Harrison CJ, Griffiths M, Moorman F, et al. A multicenter evaluation of comprehensive analysis of MLL translocations and fusion gene partners in acute leukemia using the MLL FusionChip device. Cancer Genet Cytogenet. 2007;173:17-22.
32. DeRisi J, Penland L, Brown PO, et al. Use of a cDNA microarray to analyze gene expression patterns in human cancer. Nat Genet. 1996;14:457-460.