A novel cytogenetic abnormality r(7)(::p11.2->q36.3::) in a Philadelphia-positive chronic myeloid leukemia case


The so-calledPhiladelphia(Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 and the 3' part of the ABL1 gene on chromosome 9. An additional acquired monosomy 7 or deletion of 7q is associated with poor prognosis in a variety of myeloid disorders. Here we report a novel Ph chromosome positive CML case with a ring chromosome 7 [r(7)]. Immunophenotyping was compatible with CML, although 4.5% of total leucocytes appeared like acute myelogeneous leukemia (AML) subtype M2. The r(7) was characterized in detail by array-proven multicolor banding (aMCB), the latter being of enormous significance to characterize breakpoint regions in detail. Underlying mechanisms and prognostic are discussed, as ring chromosomes are rare cytogenetic abnormalities in hematopoietic malignancies.

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Achkar, W. , Wafa, A. , Aljapawe, A. , Othman, M. and Liehr, T. (2013) A novel cytogenetic abnormality r(7)(::p11.2->q36.3::) in a Philadelphia-positive chronic myeloid leukemia case. Case Reports in Clinical Medicine, 2, 517-520. doi: 10.4236/crcm.2013.29135.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] La Starza, R., Testoni, N., Lafage-Pochitaloff, M., Ruggeri, D., Ottaviani, E., Perla, G., Martelli, M.F., Marynen, P. and Mecucci, C. (2002) Complex variant Philadelphia translocations involving the short arm of chromosome 6 in chronic myeloid leukemia. Haematologica, 87, 143-147.
[2] Lugo, T., Pendergast, A., Müller, A. and Witte, O. (1990) Tyrosine kinase activity and transformation potency of bcr-abl oncogene products. Science, 247, 1079-1082.
[3] Gebhart, E. (2008) Ring chromosomes in human neoplasias. Cytogenetics Genome Research, 121, 149-173.
[4] Luna-Fineman, S., Shannon, K.M. and Lange, B.J. (1995) Childhood monosomy 7: Epidemiology, biology, and mechanistic implications. Blood, 85, 1985-1999.
[5] Le Beau, M.M., Albain, K.S., Larson, R.A., Vardiman, J.W., Davis, E.M., Blough, R.R., Golomb, H.M. and Rowley, J.D. (1986) Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7. Journal of Clinical Oncology, 4, 325-345.
[6] Heerema, N.A., Nachman, J.B., Sather, H.N., La, M.K., Hutchinson, R., Lange, B.J., Bostrom, B., Steinherz, P.G., Gaynon, P.S., Uckun, F.M. and Children’s Cancer Group. (2004) Deletion of 7p or monosomy 7 in pediatric acute lymphoblastic leukemia is an adverse prognostic factor: A report from the Children’s Cancer Group. Leukemia, 18, 939-947. http://dx.doi.org/10.1038/sj.leu.2403327
[7] Claussen, U., Michel, S., Mühlig, P., Westermann, M., Grummt, U.W., Kromeyer-Hauschild, K. and Liehr, T. (2002) Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis. Cytogenetics Genome Research, 98, 136-146. http://dx.doi.org/10.1159/000069817
[8] Shaffer, L., Slovak, M. and Cambell, L. (2009) ISCN (2009): An international system for human cytogenetic nomenclature. S. Karger, Basel.
[9] Al-Achkar, W., Wafa, A. and Nweder, M.S. (2007) A complex translocation t(5;9;22) in Philadelphia cells involving the short arm of chromosome 5 in a case of chronic myelogenous leukemia. Journal of Experimental and Clinical Cancer Research, 26, 411-415.
[10] Liehr, T., Heller, A., Starke, H., Rubtsov, N., Trifonov, V., Mrasek, K., Weise, A., Kuechler, A. and Claussen, U. (2002) Microdissection based high resolution multicolor banding for all 24 human chromosomes. International Journal of Molecular Medicine, 9, 335-339.
[11] Al-Achkar, W., Wafa, A., Ali, B.Y., Manvelyan, M. and Liehr, T. (2010) A rare chronic myeloid leukemia case with Philadelphia chromosome, BCR-ABL e13a3 transcript and complex translocation involving four different chromosomes. Oncology Letters, 1, 797-800.
[12] Al-Achkar, W., Wafa, A., Klein, E. and Aljapawe, A. (2011) Biclonal myelodysplastic syndrome involving six chromosomes and monoallelic loss of RB1—A rare case. Molecular Cytogenetics, 4, 16.
[13] Tamaska, J., Adam, E., Kozma, A., Gopcsa, L., Andrikovics, H., Tordai, A., Halm, G., Bereczki, L., Bagdi, E. and Krenacs, L. (2006) Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. Virchows Archives, 449, 479-483.
[14] Raimondi, S.C., Chang, M.N., Ravindranath, Y., Behm, F.G., Gresik, M.V., Steuber, C.P., Weinstein, H.J. and Carroll, A.J. (1999) Chromosomal abnormalities in 478 children with acute myeloid leukemia clinical characteristics and treatment outcome in a cooperative pediatric oncology group study POG 8821. Blood, 94, 3707-3716.
[15] Fujino, H., Fujita, N., Hamamoto, K., Oobu, S., Kita, M., Tanaka, A., Matsubara, H., Watanabe, K., Heike, T. and Adachi, S. (2010) Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7. International Journal of Hematology, 92, 386-390.
[16] Mitelman, F., Johansson, B. and Mertens, F. (2013) Mitelman database of chromosome aberrations in cance.
[17] Mrozek, K., Heinonen, K. and Bloomfield, C.D. (2000) Prognostic value of cytogenetic findings in adults with acute myeloid leukemia. International Journal of Hematology, 72, 261-271.
[18] Le Beau, M., Espinosa III, R., Davis, E.M., Eisenbart, J.D., Larson, R.A. and Green, E.D. (1996) Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood, 88, 1930-1935.
[19] Lee, S.E., Choi, S.Y., Bang, J.H., Kim, S.H., Jang, E.J., Byeun, J.Y., Park, J.E., Jeon, H.R., Oh, Y.J., Kim, M. and Kim, D.W. (2012) The long-term clinical implications of clonal chromosomal abnormalities in newly diagnosed chronic phase chronic myeloid leukemia patients treated with imatinib mesylate. Cancer Genetics, 205, 563-571.
[20] Luatti, S., Castagnetti, F., Marzocchi, G., Baldazzi, C., Gugliotta, G., Iacobucci, I., Specchia, G., Zanatta, L., Rege-Cambrin, G., Mancini, M., Abruzzese, E., Zaccaria, A., Grimoldi, M.G., Gozzetti, A., Ameli, G., Capucci, M.A., Palka, G., Bernasconi, P., Palandri, F., Pane, F., Saglio, G., Martinelli, G., Rosti, G., Baccarani, M., Testoni, N., and Gruppo Italiano Malattie Ematologiche dell’Adulto (GIMEMA) Working Party on CML. (2012) Additional chromosomal abnormalities in Philadelphia-positive clone: Adverse prognostic influence on frontline imatinib therapy: A GIMEMA Working Party on CML analysis. Blood, 120, 761-767.
[21] Fabarius, A., Leitner, A., Hochhaus, A., Müller, M.C., Hanfstein, B., Haferlach, C., Gohring, G., Schlegelberger, B., Jotterand, M., Reiter, A., Jung-Munkwitz, S., Proetel, U., Schwaab, J., Hofmann, W.K., Schubert, J., Einsele, H., Ho, A.D., Falge, C., Kanz, L., Neubauer, A., Kneba, M., Stegelmann, F., Pfreundschuh, M., Waller, C.F., Spiekermann, K., Baerlocher, G.M., Lauseker, M., Pfirrmann, M., Hasford, J., Saussele, S., Hehlmann, R. and Schweizerische Arbeitsgemeinschaft für Klinische Krebsforschung (SAKK) and the German CML Study Group. (2011) Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: Longterm observation of 1151 patients from the randomized CML Study IV. Blood, 118, 6760-6768.

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