Skip to main content
SpringerLink
Log in

Cytogenetics as a Diagnostic Aid for Childhood Hematologic Disorders

Conventional Cytogenetic Techniques, Fluorescence In Situ Hybridization, and Comparative Genomic Hybridization

  • Protocol
Tumor Marker Protocols

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 14))

Abstract

Cytogenetic analysis is an important aid in the classification of hematological disorders. Most types of leukemia display either numerical chromosomal abnormalities or structural rearrangements, mainly translocations. Increasingly recognized, nonrandom chromosomal abnormalmes are espectally useful in diagnosing the leukemic subtype and predicting treatment outcome. Molecular analysis of the genes adjacent to the breakpoints of specific translocations and study of the functions of their gene products have helped to clarify the complex interactions that promote leukemogenesis and perpetuate the leukemic phenotype (1)

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Rabbitts T H. (1991) Translocations, master genes, and differences between the origins of acute and chrome leukemias. Cell 67, 641–644

    Article  PubMed  CAS  Google Scholar 

  2. Raimondi S. C (1993) Current status of cytogenettc research in childhood acute lymphoblastic leukemra Blood 81, 2237–2251.

    PubMed  CAS  Google Scholar 

  3. Pui C H (1995) Childhood leukemias. N Engl J Med 332, 1618–1630.

    Article  PubMed  CAS  Google Scholar 

  4. Raimondi S. C, Kalwmsky D K, Hayashr Y., Behm F G., Mirro J, and Williams D L. (1989) Cytogenetics of childhood acute nonlymphocytic leukemia Cancer Genet Cytogenet 40, 13–27

    Article  PubMed  CAS  Google Scholar 

  5. Tkachuk D. C, Westbrook C A, Andreeff M, Donlon T. A., Cleary M L., Suryanarayan K., Homge M., Redner A, Gray J., and Pmkel D. (1990). Detection of bcr-abl fusion in chronic myelogenous leukemia by in situ hybridization. Science 250, 559–562

    Article  PubMed  CAS  Google Scholar 

  6. Han K, Lee W, Harris C. P, Kim W, Shim S, and Meisner L F (1994) Quantifying chromosome changes and lmeage involvement in myelodysplastic syndrome (MDS) using fluorescent in situ hybndtzation (FISH) Leukemia 8, 81–86

    PubMed  CAS  Google Scholar 

  7. Kalliomemi A., Kalliomemi O.-P., Sudar D, Rutovitz D, Gray J. W, Waldman F., and Pinkel D (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors science 258, 818–821

    Article  Google Scholar 

  8. Nylund S J, Ruutu T, Saarinen U., Larramendy M L, and Knuutila S. (1994) Detection of minimal residual disease using fluorescence DNA in situ hybridization a follow-up study in leukemia and lymphoma patients Leukemia 8, 587–594.

    PubMed  CAS  Google Scholar 

  9. Whang-Peng J., Knutsen T, Jaffe E S, Steinberg S. M., Raffeld M, Zhao W P, Duffey P, Condron K, Yano T, and Longo D. L. (1995) Sequential analysis of 43 patients with non-Hodgkin’s lymphoma: clinical correlation with cytogenetic, histologic, immunophenotyping, and molecular studies Blood 85, 203–216

    PubMed  CAS  Google Scholar 

  10. Anastasi J, Vardiman J W., Rudmsky R, Patel M, Nachman J, Rubm C. M., and Le Beau M M (1991) Direct correlation of cytogenetic findings with cell morphology using in situ hybridization an analysis of susptctous cells in bone marrow specimens of two patients completing therapy for acute lymphoblastic leukemia Blood 77, 2456–2462.

    PubMed  CAS  Google Scholar 

  11. Durnam D M, Anders K R, Fisher L, O’Quigley J., Bryant E M, and Thomas E. D. (1989) Analysis of the origin of marrow cells in bone marrow transplant recipients using a Y-chromosome-specific in situ hybridization assay Blood 74, 2220–2226.

    PubMed  CAS  Google Scholar 

  12. Dewald G W, Schad C R, Christensen E R, Tiede A. L, Zinsmeister A R, Spurbeck J L, Thibodeau S N., and Jalal S M (1993) The application of fluorescence in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL Cancer Genet Cytogenet 71, 7–14

    Article  PubMed  CAS  Google Scholar 

  13. Amiel A, Yarkonim S, Slavin S, Or, R, Lorberboum-Galsky H, Fejgin M, and Nagler A (1994) Detection of minimal residual disease state in chronic myelogenous leukemia patients using fluorescence in situ hybridization Cancer Genet Cytogenet 76, 59–64

    Article  PubMed  CAS  Google Scholar 

  14. Okuda T, Shurtleff S A, Valentine M B, Raimondl S C, Head D R, Behm F., Curcio-Brint A. M., Liu Q, Pui C.-H., Sherr C J., Beach D., Look A T, and Downing J. R. (1995) Frequent deletion of p16 ink4a/ MTSI and p15 INK4b IMTS2 in pediatric acute lymphoblastic leukemia. Blood 85, 2321–2330.

    PubMed  CAS  Google Scholar 

  15. Romana S P, Pou-el H, Lecoruat M., Flexor M.-A, Mauchauffe M, Jonveaux P, Macintyre E. A., Berger R, and Bernard 0. A (1995) High frequency of t( 12,21) in childhood B-lineage acute lymphoblasttc leukemia Blood 86, 4263–4269

    PubMed  CAS  Google Scholar 

  16. Rowley J. D, Diaz M. 0, Espmosa R, III, Patel Y D, Van Melle E., Ziemm S, Tatllon-Miller P., Lichter P, Evans G. A., Kersey J. H, Ward D C, Domer P H, and Le Beau M. M (1990) Mapping chromosome band 11q23 in human acute leukemia with biotmylated probes identification of 1l q23 translocation breakpoints with a yeast artificial chromosome Proc Nat1 Acad Sci USA 87, 9358–9362

    Article  CAS  Google Scholar 

  17. Kearney L, Bower M, Gibbons B., Das S, Chaplin T, Nacheva E, Chessells J M, Reeves B, Riley J. H., Lister T A, and Young B D. (1992) Chromosome 1 lq23 translocations in both infant and adult acute leukemias are detected by in situ hybridization with a yeast artificial chromosome Blood 80, 1659–1665

    PubMed  CAS  Google Scholar 

  18. Dauwerse J. G, Wessels J W, Gales R H, Wiegant J, van der ReiJden B A, Fugazza G, Jumelet E. A., Smit E., Baas F, Raap A K, HagemeiJer A, Beverstock G. C., van Ommen G J B., and Breuning M. H. (1993) Cloning the breakpoint cluster region of the mv(16) in acute non-lymphocytic leukemia M4Eo Hum Mol Genet 2, 1527–1534

    Article  PubMed  CAS  Google Scholar 

  19. Schad C R, Hanson C. A, Paietta E, Casper J, Jalal S. M, and Dewald G. W. (1994) Efficacy of fluorescence In situ hybridization for detecting PML/ RARA gene fusion in treated and untreated acute promyelocytlc leukemia Mayo Clan Proc 64, 1047–1053.

    Google Scholar 

  20. Pinkel D, Landegent J., Collins C., Fuscoe J, Segraves R, Lucas J., and Gray J. (1988) Fluorescence In situ hybridization with human chromosome-specific libraries detection of trisomy 21 and translocations of chromosome 4 Proc Nat1 Acad. Sci. USA 85, 9138–9142

    Article  CAS  Google Scholar 

  21. Ftlatov L V, Behm F G, Pm C-H, Head D R, Downing J R, and Ratmondi S C (1995) Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(1;19) translocation. Genes Chrom Can 13, 99–103.

    Article  Google Scholar 

  22. Rigby P W, Dieckmann M., Rhodes C., and Berg P (1977) Labeling of deoxyribonucleic acid to high specific activity in vitro by nick translatton with DNA polymerase I J Mol Biol 113, 237–251.

    Article  PubMed  CAS  Google Scholar 

  23. Willlams D L., Harris A, Williams K J, Brosms M J, and Lemonds W. (1984) A direct bone marrow chromosome technique for acute lymphoblastic leukemia Cancer Genet Cytogenet 13, 239–257.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, St. Jude Children’s Research Hospital, and Department of Pathology, University of Tennessee, Memphis, TN

    Susana C. Raimondi

  2. Department of Pathology and Laboratory Medicine, St. Jude Children’s Research Hospital, Memphis, TN

    Susan Mathew

  3. Department of Pathology and Laboratory Medicine, St. Jude Children’s Research Hospital, and Departments of Pathology and Pediatrics, University of Tennessee, Memphis, TN

    Ching-Hon Pui

Authors
  1. Susana C. Raimondi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Susan Mathew
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ching-Hon Pui
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. AMC Cancer Research Center, Denver, CO

    Margaret Hanausek  & Zbigniew Walaszek  & 

Rights and permissions

Reprints and permissions

Copyright information

© 1998 Humana Press Inc, Totowa, NJ

About this protocol

Cite this protocol

Raimondi, S.C., Mathew, S., Pui, CH. (1998). Cytogenetics as a Diagnostic Aid for Childhood Hematologic Disorders. In: Hanausek, M., Walaszek, Z. (eds) Tumor Marker Protocols. Methods in Molecular Medicine™, vol 14. Springer, Totowa, NJ. https://doi.org/10.1385/0-89603-380-5:209

Download citation

  • DOI: https://doi.org/10.1385/0-89603-380-5:209

  • Publisher Name: Springer, Totowa, NJ

  • Print ISBN: 978-0-89603-380-1

  • Online ISBN: 978-1-59259-598-3

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics

Search

Navigation