Skip to main content

Molecular Genetics and the Diagnosis of Hematological Malignancies

  • Chapter
  • 264 Accesses

Part of the book series: Pathology and Laboratory Medicine ((PLM))

Abstract

The hematological malignancies can be broadly categorized into the malignant lymphomas, which include the two major categories, non-Hodgkin’ s lymphoma (NHL) and Hodgkin’ s disease, the acute and chronic lymphoid leukemias, which may be of B- or T-cell type, acute myelogenous leukemia, the myelodysplastic syndromes, and the myeloproliferative disorders. The goal of this chapter is to focus on the hematopathological approach to the diagnosis of the various hematological disorders with emphasis on those disorders in which molecular genetic methods, specifically Southern blotting and polymerase chain reaction (PCR), are most commonly employed.

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

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Harris, N. L., Jaffe, E. S., Stein, H., Banks, P. M., Chan, J. K. C., Cleary, M. L., et al. A revised European-American classification of lymphoid neoplasms: a proposal from the International Lymphoma Study Group. Blood 84:1361–1392, 1994.

    PubMed  CAS  Google Scholar 

  2. Jaffe, E. S. The role of immunophenotypic markers in the classification of non-Hodgkin’ s lymphomas. Semin. Oncol. 17:11–19, 1990. 3. Cossman, J., Uppenkamp, M., Sundeen, J., Coupland, R., and Raffeld, M. Molecu-lar genetics and the diagnosis of lymphoma. Arch. Pathol. Lab. Med. 112:117–127, 1988.

    Google Scholar 

  3. Campana, D. and Pui, C.-H. Detection of minimal residual disease in acute leukemia: methodologic advances and clinical significance. Blood 85:1416–1434, 1995.

    PubMed  CAS  Google Scholar 

  4. Medeiros, L. J., Bagg, A., and Cossman, J. Application of molecular genetics to the diag-nosis of hematopoietic neoplasms, in Neoplastic Hematopathology, Knowles, D. M., ed., Williams and Wilkins, Baltimore, pp. 263–298, 1992.

    Google Scholar 

  5. Cooper, M. D. B lymphocytes: normal development and function. New Engl. J. Med. 317:1452–1456, 1987.

    Article  PubMed  CAS  Google Scholar 

  6. Sklar, J. Antigen receptor genes: structure, function, and techniques for analysis of their rearrangements, in Neoplastic Hematopathology, Knowles, D. M., ed., Williams and Wilkins, Baltimore, pp. 215–244, 1992.

    Google Scholar 

  7. Foon, K. A. and Todd, R. F. Immunologic classification of leukemia and lymphoma. Blood 68:1–31, 1986.

    PubMed  CAS  Google Scholar 

  8. Spits, H., Lanier, L. L., and Phillips, J. H. Development of human T and natural killer cells. Blood 85:2654–2670, 1995.

    PubMed  CAS  Google Scholar 

  9. Royer, H. D. and Reinherz, E. L. T lymphocytes: ontogeny, function, and relevance to clinical disorders. New Engl. J. Med. 317:1136–1142, 1987.

    Article  PubMed  CAS  Google Scholar 

  10. Gill, J. I. and Gulley, M. L. Immunoglobulin and T cell receptor gene rearrangement. Hematol. Oncol. Clin. North Am. 8:751–770, 1994.

    PubMed  CAS  Google Scholar 

  11. Cossman, J., Zehnbauer, B., Garrett, C. T., Smith, L. J., Williams, M., Jaffe, E. S., Hanson, L. O., and Love, J. Gene rearrangements in the diagnosis of lymphoma/leuke-mia. Guidelines for use based on a multiinstitutional study. Am. J. Clin. Pathol. 95:347–354, 1991.

    PubMed  CAS  Google Scholar 

  12. Hodges, K. A., Kosciol, C. M., Rezuke, W. N., Abernathy, E. C., Pastuszak, W. T., and Tsongalis, G. J. Chemiluminescent detection of gene rearrangements in hematologic malignancy. Ann. Clin. Lab. Sci. in press.

    Google Scholar 

  13. Medeiros, L. J. and Weiss, L. M. The utility of the polymerase chain reaction as a screen-ing method for the detection of antigen receptor gene rearrangements. Hum. Pathol. 25:1261–1263, 1994.

    Article  PubMed  CAS  Google Scholar 

  14. Macintyre, E. A. The use of the polymerase chain reaction in hematology. Blood Rev. 3:201–210, 1989.

    Article  PubMed  CAS  Google Scholar 

  15. Sioutos, N., Bagg, A., Michaud, G. Y., Irving, S. G., Hartmann, D. P., Siragy, H., Oliveri, D. R., Locker, J., and Cossman, J. Polymerase chain reaction versus Southern blot hybrid-ization. Detection of immunoglobulin heavy-chain gene rearrangements. Diagn. Mol. Pathol. 4:8–13, 1995.

    Article  PubMed  CAS  Google Scholar 

  16. Weiss, L. M. and Spagnolo, D. V. Assessment of clonality in lymphoid proliferations. Am. J. Pathol. 142:1679–1682, 1993.

    PubMed  CAS  Google Scholar 

  17. Segal, G. H., Jorgensen, T., Scott, M., and Braylan, R. C. Optimal primer selection for clonality assessment by polymerase chain reaction analysis: II. Follicular lymphomas. Hum. Pathol. 25:1276–1282, 1994.

    Article  PubMed  CAS  Google Scholar 

  18. Gaidano, G. and Dalla-Favera, R. Protooncogenes and tumor suppressor genes, in Neo-plastic Hematopathology. Knowles, D. M., ed., Williams and Wilkins, Baltimore, pp. 245– 261, 1992.

    Google Scholar 

  19. Korsmeyer, S. J. Bcl-2 initiates a new category of oncogenes: regulators of cell death. Blood 80:879–886, 1992.

    PubMed  CAS  Google Scholar 

  20. Crisan, D., Chen, S-T., and Weil, S. C. Polymerase chain reaction in the diagnosis of chromosomal breakpoints. Hematol. Oncol. Clin. North Am. 8:725–750, 1994.

    PubMed  CAS  Google Scholar 

  21. Banks, P. M., Chan, J., Cleary, M. L., Delsol, G., De Wolf- Peeters, C., and Gatter, K. Mantle cell lymphoma. A proposal for unification of morphologic, immunologic, and molecular data. Am. J. Surg. Pathol. 16:637–640, 1992.

    Article  PubMed  CAS  Google Scholar 

  22. Ngan, B.-Y., Nourse, J., and Cleary, M. L. Detection of chromosomai translocation t(14;18) within the minor cluster region of bcl-2 by polymerase chain reaction and direct genomic sequencing of the enzymatically amplified DNA in follicular lymphomas. Blood 73:1759–1762, 1989.

    PubMed  CAS  Google Scholar 

  23. Haluska, F. G., Brufsky, A. M., and Canellos, G. P. The cellular biology of the Reed-Sternberg cell. Blood 84:1005–1019, 1994.

    PubMed  CAS  Google Scholar 

  24. Agnarsson, B. A. and Kadin, M. E. The immunophenotype ofReed-Sternberg cells. A study of 50 cases of Hodgkin’ s disease using fixed frozen tissues. Cancer 63:2083–2087, 1989.

    Article  PubMed  CAS  Google Scholar 

  25. Weiss, L. M., Strickler, J. G., Hu, E., Warnke, R. A., and Sklar, J. Immunoglobulin gene rearrangements in Hodgkin’ s disease. Hum. Pathol. 17:1009–1014, 1986.

    Article  PubMed  CAS  Google Scholar 

  26. Hummel, M., Ziemann, K., Lammert, H., Pileri, S., Sabattini, E., and Stein, H. Hodgkin’ s disease with monoclonal and polyclonal populations of Reed-Sternberg cells. New Engl. J. Med. 333:901–906, 1995.

    Article  PubMed  CAS  Google Scholar 

  27. Larson, R. A., Williams, S. F., Le Beau, M. M., Bitter, M. A., Vardiman, J. W., and Rowley, J. D. Acute myelomonocytic leukemia with abnormal eosinophils and inv (16) or t(16;16) has a favorable prognosis. Blood 68:1242–1249, 1986.

    PubMed  CAS  Google Scholar 

  28. Vardiman, J. W. Chronic myelogenous leukemia and the myeloproliferative disorders, in Neoplastic Hematopathology, Knowles, D. M., ed., Williams and Wilkins, Baltimore, pp. 1405–1438, 1992.

    Google Scholar 

  29. Kurzrock, R., Gutterman, J. U., and Talpaz, M. The molecular genetics of Philadelphia chromosome-positive leukemias. New Engl. J. Med. 319:990–998, 1988.

    Article  PubMed  CAS  Google Scholar 

  30. Copelan, E. A. and McGuire, E. A. The biology and treatment of acute lymphoblastic leukemia in adults. Blood 85:1151–1168, 1995.

    PubMed  CAS  Google Scholar 

  31. Kawasaki, E. S., Clark, S. S., Coyne, M. Y., Smith, S. D., Champlin, R., Witte, O. N., and McCormick, F. P. Diagnosis of chronic myeloid and acute lymphocytic leukemias by detection of leukemia-specific mRNA sequences amplified in vitro. Proc. Natl. Acad. Sci. USA 85:5698–5702, 1988.

    Article  PubMed  CAS  Google Scholar 

  32. Cowan, J. M. Fishing for chromosomes: the art and its applications. Diagn. Mol. Pathol. 3:224–226, 1994.

    Article  PubMed  CAS  Google Scholar 

  33. Negrin, R. S. and Blume, K. G. The use of the polymerase chain reaction for the detection of minimal residual malignant disease. Blood 78:255–258, 1991.

    PubMed  CAS  Google Scholar 

  34. Sklar, J. Polymerase chain reaction: the molecular microscope of residual disease. J. Clin. Oncol. 9:1521–1524, 1991.

    PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1997 Springer Science+Business Media New York

About this chapter

Cite this chapter

Rezuke, W.N., Abernathy, E.C. (1997). Molecular Genetics and the Diagnosis of Hematological Malignancies. In: Coleman, W.B., Tsongalis, G.J. (eds) Molecular Diagnostics. Pathology and Laboratory Medicine. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-4757-2588-9_15

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-2588-9_15

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-2590-2

  • Online ISBN: 978-1-4757-2588-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics