Abstract
The occurrence of a four-way Philadelphia chromosome translocation is a very rare event in myeloid malignancies, and the phenotypic consequences of such rearrangements remain to be investigated. We describe a case of a chronic myeloid leukemia (CML) patient with a complex four-way t(9;22;7,1) translocation who received multiple tyrosine kinase inhibitor therapy. As evaluation of prognostic features in a limited number of patients with four-way Philadelphia rearrangements at present yields controversial results, our case may add further information on the prognostic impact of such abnormalities in CML patients receiving tyrosine kinase inhibitor therapy, and may help delineate a sub-group of patients requiring different therapeutic approaches.
References
Bennour A, Sennana H, Laatiri MA, Elloumi M, Khelif A, Saad A. Molecular cytogenetic characterization of variant Philadelphia translocations in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9. Cancer Genet Cytogenet. 2009;194:30–7.
Giere I, Migliorini AM, Bengio R, Arias D, Slavutsky I, Larripa I. Cytogenetic and molecular studies of variant Ph′ translocations. Haematologica. 2000;85:435–7.
Shaffer LG, Slovak ML, Campbell LJ. ISCN. International System of Human Cytogenetic Nomenclature. Basel: S Karger AG; 2009.
Reid AG, Huntly BJ, Grace C, Green AR, Nacheva EP. Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia. Br J Haematol. 2003;121:419–27.
El-Zimaity MMT, Kantarjian H, Talpaz M, O’Brien S, Giles F, et al. Results of imatinib mesylate therapy in chronic myelogenous leukaemia with variant Philadelphia chromosome. Br J Haematol. 2004;125:187–95.
Marzocchi G, Castagnetti F, Luatti S, Baldazzi C, Stacchini M, Gugliotta G, et al. Variant Philadelphia translocations: molecular-cytogenetic characterization and prognostic influence on frontline imatinib therapy, a GIMEMA Working Party on CML analysis. Blood. 2011;117:6793–800.
Okada M, Satake A, Kaida K, Taniguchi K, Yoshihara S, Ikegame K, et al. Successful treatment with nilotinib after imatinib failure in a CML patient with a four-way Ph chromosome translocation and point mutations in BCR/ABL gene. Int J Hematol. 2011;93:243–6.
Fitzgerald PH, Morris CM. Complex chromosomal translocations in the Philadelphia chromosome leukemias. Serial translocations or a concerted genomic rearrangement? Cancer Genet Cytogenet. 1991;57:143–51.
Gorusu M, Benn P, Li Z, Fang M. On the genesis and prognosis of variant translocations in chronic myeloid leukemia. Cancer Genet Cytogenet. 2007;173:97–106.
Fundia AF, Acevedo SH, Larripa IB. Chromosomal instability in chronic myeloid leukemia: Philadelphia breakpoints are irrespective to spontaneous breakage and fragile sites. Haematologica. 2000;85:1104–6.
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Adriana, Z., Al Bahar, S. Novel four-way Ph translocation t(9;22;7;1)(q34;q11;q22;p13) in a chronic myeloid leukemia patient receiving tyrosine kinase inhibitor therapy. Int J Hematol 95, 315–319 (2012). https://doi.org/10.1007/s12185-012-1018-9
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DOI: https://doi.org/10.1007/s12185-012-1018-9