Preleukemia pp 68-74 | Cite as

Chromosome Findings in Preleukemia

  • K.-P. Hellriegel


Cytogenic studies were performed on 52 patients with potentially preleukemic states such as refractory anemia, sideroblastic anemia, pure red cell aplasia, aplastic anemia, and paroxysmal nocturnal hemoglobinuria to evaluate the diagnostic and prognostic significance of chromosome findings. In 36 of the 52 patients, no chromosome aberrations were detected, whereas 16 patients showed aneuploidy. Seven patients with diploidy and nine patients with aneuploidy died from acute leukemia. Six patients with aneuploidy died 1–25 months after the detection of the aneuploidy, but without evidence of overt acute leukemia. One patient with aneuploidy is still alive without signs of overt acute leukemia.

The following conclusions can be drawn: (a) The demonstration of clonal chromosome abnormalities in bone marrow cells of patients with potentially preleukemic states is associated with a higher risk of acute leukemia; (b) Patients with clonal chromosome aberrations have an approximately threefold higher risk of developing acute leukemia than those without detectable chromosome aberrations; (c) Patients with atypical marker chromosomes apparently have a high risk of developing acute leukemia; (d) In cases with hypodiploidy, it has to be stressed that the loss of a gonosome is a common event in an elderly man and may not be interpreted as evidence for leukemia; (e) A diploid karyotype does not necessarily exclude the terminal appearance of acute leukemia, since in about 50% of adult acute leukemias chromosome aberrations cannot be detected.


Aplastic Anemia Acute Leukemia Chromosome Aberration Paroxysmal Nocturnal Hemoglobinuria Refractory Anemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Berghe, H. van den, Cassiman, J.J., David, G., Fryns, J.P., Michaux, J.L., Sokal, G.: Distinct haematological disorder with deletion of long arm of No. 5 chromosome. Nature (London) 251, 437 (1974)CrossRefGoogle Scholar
  2. 2.
    Fitzgerald, P.H., Hamer, J.W.: Primary acquired red cell hypoplasia associated with a clonal chromosomal abnormality and disturbed erythroid proliferation. Blood 38, 325 (1971)PubMedGoogle Scholar
  3. 3.
    Freireich, E.J., Whang, J., Tjio, J.H., Levin, R.H., Brittin, G.M., Frei, E. Ill: Refractory anemia, granulocytic hyperplasia of bone marrow, and a missing chromosome in marrow cells. A new clinical syndrome? Clin. Res. 12, 284 (1964)Google Scholar
  4. 4.
    Golomb, H.M., Vardiman, J., Rowley, J.D.: Acute nonlymphocytic leukemia in adults: Correlations with Q-banded chromosomes. Blood 48, 9 (1976)PubMedGoogle Scholar
  5. 5.
    Hellriegel, K.-P.: Chromosome findings in adult and acute leukemia and preleukemia: Their relation to prognosis. In: Prognostic Factors in Human Acute Leukemia. Advances in the Biosciences 14, 415–427. Fliedner, T.M., Perry, S. (eds.) Oxford, New York, Toronto, Sydney: Pergamon Press 1974Google Scholar
  6. 6.
    Hellstrom, K., Hagenfeldt, L., Larsson, A., Lindsten,J., Sudelin,P., Tiepolo, L.: An extra C chromosome and various metabolic abnormalities in the bone marrow from a patient with refractory sideroblastic anemia. Scand. J. Haemat. 8, 293 (1971)PubMedCrossRefGoogle Scholar
  7. 7.
    Jensen, M.K., Philip, P.: Cytogenetic studies in haematological disorders which may terminate in acute leukaemia. Acta med. scand. 193, 353 (1973)PubMedCrossRefGoogle Scholar
  8. 8.
    Lam-Po-Tang, P.R.L.C.: An improved method of processing bone marrow for chromo-somes. Scand. J. Haemat. 5, 158 (1968)PubMedCrossRefGoogle Scholar
  9. 9.
    Mark, J.: Chromosomal abnormalities and their specificity in human neoplasms: An assessment of recent observations by banding techniques. Advances in Cancer Res. 24, 165 (1977)CrossRefGoogle Scholar
  10. 10.
    Nowell, P.C.: Marrow chromosome studies in “preleukemia”. Further correlation with clinical course. Cancer 28, 5 13 (1971)Google Scholar
  11. 11.
    Pierre, R.V., Hoagland, H.C.: Age associated aneuploidy: loss of Y chromosome from human marrow cells with aging. Cancer 30, 889 (1972)PubMedCrossRefGoogle Scholar
  12. 12.
    Rowley, J.D., Blaisdell, R.K., Jacobsen, L.O.: Chromosome studies in preleukemia. I. Aneuploidy of group C chromosome in three patients. Blood 27, 782 (1966)PubMedGoogle Scholar
  13. 13.
    Rowley, J.D., Potter, D.: Chromosomal banding patterns in acute nonlymphocytic leukemia. Blood 47, 705 (1976)PubMedGoogle Scholar
  14. 14.
    Sokal, G., Michaux, J.L., Berghe, H. van den, Cordier, A., Rodhain, J., Ferrant, A., Moriau, M., de Bruyere, M., Sonnet, J.: A new hematologic syndrome with a distinct karyotype: The 5q-chxomosome. Blood 46, 519 (1975)Google Scholar
  15. 15.
    Sumner, A.T., Evans, H.J., Buckland, R.A.: New technique for distinguishing between human chromosomes. Nature (New Biol.) 232, 31 (1971)Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1979

Authors and Affiliations

  • K.-P. Hellriegel

There are no affiliations available

Personalised recommendations