Human Genetics

, Volume 58, Issue 3, pp 285–293 | Cite as

Correlations between the clinical course, characteristics of blast cells, and karyotype patterns in chronic myeloid leukemia

  • E. W. Fleischman
  • E. L. Prigogina
  • M. A. Volkova
  • M. A. Frenkel
  • N. A. Zakhartchenko
  • L. N. Konstantinova
  • G. P. Puchkova
  • S. A. Balakirev
Original Investigations
Received:

Summary

Results of chromosome studies of blood and bone marrow cells from 101 patients with Ph1 positive chronic myeloid leukemia (CML) confirm the assumption that clinical and morphologic manifestations of the disease correlate with karyotype peculiarities of leukemic cells. Several variants of the clinical course of CML may be distinguished. One is the variant with a short chronic phase and a comparatively long terminal phase. In blastic crisis the blast cells are peroxidase negative and do not possess cytoplasmic inclusions. Acute transformation occurs without any additional chromosome damage. The second, more common form is less severe because of longer chronic phase but it has a short and grave acute stage. The blast cells present definite signs of myeloid differentiation, they have basophilic or neutrophilic cytoplasmic granules and are peroxidase positive. Marker i(17q) often combined with trisomy 8 is a characteristic chromosome abnormality in the terminal stage of this variant. The third type has an extremely long chronic phase but ends in a rapidly progressing severe and resistant to therapy “lymphoid” blastic crisis. Blast cells have typical “lymphoid” morphology, they are peroxidase negative and contain granular PAS positive substance. Various additional chromosome changes appear in the terminal stage. Future studies of a larger series of patients may possibly reveal more CML variants.

Keywords

Chronic Myeloid Leukemia Chronic Phase Blast Cell Cytoplasmic Inclusion Terminal Stage 
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.
This is a preview of subscription content, log in to check access.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Abe S, Sandberg A (1979) Chromosomes and causation of human cancer and leukemia. XXII. Unusual features of Ph1-positive acute myeloblastic leukemia (AML) including a review of the literature. Cancer 43:2352–2364PubMedGoogle Scholar
  2. Alimena G, Brandt L, Dalapiccola B, Mitelman F, Nilsson PG (1979) Secondary chromosome changes in chronic myeloid leukemia: relation to treatment. Cancer Genetics Cytogenet 1:79–85CrossRefGoogle Scholar
  3. Atkin NB, Taylor MC (1962) A case of chronic myeloid leukemia with a 45-chromosome cell-line in the blood. Cytogenetics 1:97–103PubMedGoogle Scholar
  4. Berghe H Van den, Brandt L, Borgström GH, Catovsky D, de la Chapelle A, Golomb HM, Hossfeld DK, Lawler S (1978) First International Workshop on Chromosomes in Leukemia. Cancer Res 38:867–868Google Scholar
  5. Berghe H Van den, Cuido D, Jean-Konis IM, Sokal G (1979) Nonrandom chromosome anomalies in human myeloproliferative disorders. Cancer Detection Prevention 2:113–123Google Scholar
  6. Bloomfield CD, Peterson LC, Yunis JJ, Brunning RD (1977) The Philadelphia chromosme (Ph1) in adults presenting with acute leukemia: a comparison of Ph1+and Ph1-patients. Br J Haematol 36:347–358PubMedGoogle Scholar
  7. Clarkson BD, Dowling MD, Gee TS, Cunningham L, Hopfan S, Knapper WH, Vaartaja T, Haghlin M (1974) Radical therapy for chronic granulocytic leukemia. 15th Congress of the International Society of Hematology (Jerusalem), Sept 1–6, p 136Google Scholar
  8. Cohen MM, Ariel I, Dagan I (1974) Chromosome deletion (46,XY,20q-) in sideroblastic anemia. Isr J Med Sci 10:1393–1396PubMedGoogle Scholar
  9. Fleischman EW, Prigogina EL (1975) G-banding in cytogenetic study of hemoblastoses. Hum Genet 26:335–342Google Scholar
  10. Fleischman EW, Prigogina EL, Volkova MA, Petkovich I (1977) Unusual translocation (10;22) in chronic myelogenous leukemia. Hum Genet 39:127–129PubMedGoogle Scholar
  11. Galton DAG (1972) Radical therapy for chronic granulocytic leukemia. In: Fiorento M, Vagnellista R, Grigoletto E (eds) Procedings of the II Padua Seminar on Clinical Oncology, Padua, p 95Google Scholar
  12. Gibbs TJ, Wheeler MV, Bellingham TAJ, Walker S (1977) The significance of the Philadelphia chromosome in acute lymphoblastic leukemia: a report of two cases. Br J Haematol 37:447–453PubMedGoogle Scholar
  13. Golde DW, Bersch AL, Sparkles RS (1976) Chromosomal mosaicism associated with prolonged remission in chronic myelogenous leukemia. Cancer 37:1849–1852PubMedGoogle Scholar
  14. Hagemeijer A, Smith EM, Löwenberg B, Abels JE (1979) Chronic myeloid leukemia with permanent disappearance of the Ph1 chromosome and development of new clonal subpopulations. Blood 53: 1–14PubMedGoogle Scholar
  15. Hossfeld DK (1974) Identification of chromosome anomalies in the blastic phase of chronic myelocytic leukemia (CML) by Giemsa and Quinacrine banding techniques. Hum Genet 23:111–118Google Scholar
  16. ISCN (1978) An international system for human cytogenetic nomenclature. Cytogenet Cell Genet 21:309–404Google Scholar
  17. Lawler SD, Lobb DS, Wiltshaw E (1974) Philadelphia chromosome positive bone marrow cells showing loss of the Y in males with chronic myeloid leukemia. Br J Haematol 27:247–252PubMedGoogle Scholar
  18. Lawler SD, O'Malley F, Lobb DS (1976) Chromosome banding studies in Philadelphia chromosome positive myeloid leukemia. Scand J Haematol 17:17–28PubMedGoogle Scholar
  19. Meisner LF, Chuprevich TW, Jonson CB, Inborn SL, Carter II (1973) Banding of human chromosomes with caesium chloride. Lancet 1: 100–101PubMedGoogle Scholar
  20. Mitelman F (1980) Cytogenetics of experimental neoplasms and nonrandom chromosome correlations in man. Clin Haematol 9:195–219PubMedGoogle Scholar
  21. Mitelman F, Levan G, Nilsson PG, Brandt L (1976) Nonrandom karyotypic evolution in chronic myeloid leukemia. Int J Cancer 18:24–30PubMedGoogle Scholar
  22. Oshimura M, Freeman AJ, Sandberg AA (1977) Chromosomes and causation of human cancer and leukemia. XXVI. Banding studies in acute lymphoblastic leukemia. Cancer 40:1161–1172PubMedGoogle Scholar
  23. Pasquali F, Gasalone R, Francesconi D, Peretti D, Fraccaro M, Bernasconi C, Lazzarino M (1979) Transposition of 9q34 and 22(q11→qter) regions has a specific role in chronic myelocytic leukemic. Hum Genet 52:55–67PubMedGoogle Scholar
  24. Pedersen B (1968) Males with XO Ph1-positive cells. A cytogenetic and clinical subgroup of chronic myelogenous leukemia. Report of a case. Acta Pathol Microbiol Scand 72:360–366PubMedGoogle Scholar
  25. Prigogina EL, Fleischman EW (1975) Certain patterns of karyotype evolution in chronic myelogenous leukemia. Hum Genet 30:113–119Google Scholar
  26. Prigogina EL, Fleischman EW, Volkova MA, Frenkel MA (1978) Chromosome abnormalities and clinical and morphologic manifestations of chronic myeloid leukemia. Hum Genet 41:143–156PubMedGoogle Scholar
  27. Reeves BR, Lobb DS, Lawler SD (1972) Identity of abnormal F-group chromosome associated with polycythaemia vera. Hum Genet 14:159–161Google Scholar
  28. Rowley JD (1978) Nonrandom chromosomal abnormalities in hematological disorders of man. Proc Natl Acad Sci USA 72:152–166Google Scholar
  29. Rowley JD (1978) Chromosomes in leukemia and lymphoma. Semin Haematol 15:301–319Google Scholar
  30. Sandberg AA (1980) The chromosomes in human cancer and leukemia. Elsevier, New York AmsterdamGoogle Scholar
  31. Sandberg AA, Sakurai M (1973) The missing Y chromosome and human leukemia. Lancet 1:375CrossRefGoogle Scholar
  32. Sonta S, Sandberg AA (1978) Chromosomes and causation of human cancer and leukemia. XXIX. Further studies on karyotypic progression in CML. Cancer 41:153–163PubMedGoogle Scholar
  33. Testa IR, Kinnealey I, Rowley JD, Potter D, Golde DN, McFarland I (1977) The 20q- chromosome in myeloproliferative disorders. Am J Hum Genet 26:106AGoogle Scholar

Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • E. W. Fleischman
    • 1
  • E. L. Prigogina
    • 1
  • M. A. Volkova
    • 1
  • M. A. Frenkel
    • 1
  • N. A. Zakhartchenko
    • 1
  • L. N. Konstantinova
    • 1
  • G. P. Puchkova
    • 1
  • S. A. Balakirev
    • 1
  1. 1.Cytogenetic Laboratory, Cancer Research CentreAMS USSRMoscowUSSR

Personalised recommendations