Summary
Six cases are reported of variant Ph′ translocations found among 240 patients with Ph′-positive CML. Five cases had a three-chromosome rearrangement involving, in addition to chromosomes 9 and 22, chromosomes 7, 4, 2(two), and 3 respectively, and one case had a two-chromosome rearrangement 22/5. A review of the literature revealed that three- and two-chromosome variant Ph′ translocations are observed with equal frequency. It is postulated that all variant translocations are indeed three-chromosome rearrangements, that the specific event for the formation of the Ph′ chromosome is the reciprocal translocation 9/22, and that the transposition of regions 9q34 and 22 (q11→qter), plays a major role in the development of CML.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Adler, K. R., Lempert, N., Scharfman, W. B.: Chronic granulocytic leukemia following successful renal transplantation. Cancer 41, 2206–2208 (1978)
Anderson, C., Mohandas, T., Okun, D.: Chronic myelogeneous leukemia with a complex translocation. The American Society of human genetics, 29th annual meeting, Vancouver, October 4–7, 1978 (Abstract), p. 73A
Ayraud, N., Dujardin, P., Audoly, P.: Leucémie aiguë lymphoblastique avec chromosome Philadelphie. Rôle probable d'une translocation 14–22. Nouv. Presse Med. 4, 3613 (1975)
Berger R., Gyger, M., Bussel, A.: Anomalie chromosomique nouvelle dans une leucémie myéloïde chronique. Nouv. Rev. Franc. Hématol. 16, 309–320 (1976)
Berger, R., Bernheim, A.: A comment on the paper: Reciprocal translocation and the Philadelphia chromosome. Hum. Genet. 44, 357–358 (1978)
Berghe, H. Van den, David, G., Broeckaert-Van Orshoven, A., Louwagie, A., Verwilghen, R.: Unusual Ph′ translocation in acute myeloblastic leukemia. N. Eng. J. Med. 299, 360 (1978)
Borgaonkar D. S., Bolling, D. R.: Repository of chromosomal variants and anomalies in man. Fourth listing, p. 63. Baltimore: John Hopkins University School of Medicine 1977
Engel, E., McGee, B. J., Flexner, J. M., Russell, M. T., Myers, B. J.: Philadelphia chromosome (Ph′) translocation in an apparently Ph′ negative, minus G22, case of chronic myeloid leukemia. N. Engl. J. Med. 291, 154 (1974)
Engel, E., McGee, B. J., Flexner, J. M., Krantz, S. B.: Translocation of the Philadelphia chromosome onto the 17 short arm in chronic myeloid leukemia: A second example. N. Engl. J. Med. 293, 666–667 (1975)
Engel, E., McGee, B. J., Myers, B. J., Flexner, J. M., Krantz, S. B.: Chromosome banding patterns of 49 cases of chronic myelocytic leukemia. N. Engl. J. Med. 296, 1295 (1977)
First International Workshop on Chromosomes in Leukemia: Chromosomes in Ph′-positive chronic granulocytic leukemia. Br. J. Hematol. 39, 305–309 (1978)
Fraisse, J., Lauras, B., La Selve, A., Freycon, F.: Deux nouveaux cas de trisomie 10q24→10qter chez deux soeurs par translocation paternelle t(9;10)(q34;q24). Ann. Génét. 20, 128–131 (1977)
Francesconi, D., Pasquali, F.: Three chromosomes' (7;9;22) rearrangement and the origin of the Philadelphia chromosome. Hum. Genet. 43, 133–137 (1978)
Hagemeijer, A., Smit, E. M. E., Bootsma, D.: Cytogenetic follow-up studies of patients with acute non-lymphocytic leukemia and chronic myeloid leukemia. Clin. Genet. 14, 292–293 (1978)
Hayata, I., Sakurai, M., Kakati, S., Sandberg, A. A.: Chromosomes and causation of human cancer and leukemia. XVI. Banding studies of chronic myelocytic leukemia including five unusual Ph′ translocations. Cancer 36, 1177–1191 (1975)
Ishihara, T., Kohno, S.-I., Kumatori, T.: Ph′ translocation involving chromosomes 21 and 22. Br. J. Cancer 29, 340–342 (1974)
Jotterand-Bellomo, M.: One case of a Ph′ chromosome resulting from translocation of the distal end of 22q onto the short arm of chromosome 15. Cytogenet. Cell Genet. 21, 168–169 (1978)
Lawler, S., O'Malley, F., Lobb, D. S.: Chromosome banding studies in Philadelphia chromosome positive myeloid leukaemia. Scand. J. Hematol. 17, 17–28 (1976)
Mayall, B. H., Carrano, A. V., Moore, D. H. II, Rowley, J. D.: Quantification by DNA-based cytophotometry of the 9q+/22q- chromosomal translocation associated with chronic myelogenous leukemia. Cancer Res. 37, 3590–3593 (1977)
Mitelman, F., Levan, G.: Clustering of aberrations to specific chromosomes in human neoplasms. III. Incidence and geographic distribution of chromosome aberrations in 856 cases. Hereditas 89, 207–232 (1978)
Oshimura, M., Sandberg, A. A.: Chromosomes and causation of human cancer and leukemia. XXV. Significance of the Ph′ (including unusual translocations) in various acute leukemias. Cancer 40, 1149–1160 (1977)
Rodman, T. C., Flehinger, B. J., Squire, R. D.: Patterns of association in the human metaphase complement: Ring analysis and estimation of associativity of specific chromosome regions. Hum. Genet. 41, 19–34 (1978)
Rowley, J. D.: The cytogenetics of acute leukaemia. Clin. Hematol. 7, 385–406 (1978)
Seabright, M., Pearson, J.: Cytogenetic findings in 108 cases of chronic myeloid leukaemia. Clin. Genet. 14, 308–309 (1978)
Sonta, S., Sandberg, A. A.: Chromosomes and causation of human cancer and leukemia. XXIV. Unusual and complex Ph′ translocations and their clinical significance. Blood 50, 691–697 (1977)
Tanzer, J., Najean, Y., Frocrain, C., Bernheim, A.: Chronic myelocytic leukemia with a masked Ph′ chromosome. N. Engl. J. Med. 296, 571–572 (1977)
Watt, J. L., Page, B. M.: Reciprocal translocation and the Philadelphia chromosome. Hum. Genet. 42, 163–170 (1978)
Zuffardi, O., Bühler, E., Fraccaro, M.: Chromosome 15 and Prader-Willi syndrome. Clin. Genet. 14, 315–316 (1978)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pasquali, F., Casalone, R., Francesconi, D. et al. Transposition of 9q34 and 22 (q11→qter) regions has a specific role in chronic myelocytic leukemia. Hum Genet 52, 55–67 (1979). https://doi.org/10.1007/BF00284598
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00284598