Volume 1, Issue 2, July 2015, Page: 30-34
Characterization of Three-Way Translocation [t(4;9;22)(p16;q34;q11.2)] in Chronic Myeloid Leukemia
Salil Vaniawala, Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Surat, India
Pratik Chavda, Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Surat, India
Ganesh Jori, Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Surat, India
Keur Patil, Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Surat, India
Pankaj Gadhia, Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, Surat, India
Received: Jun. 19, 2015;       Accepted: Jun. 30, 2015;       Published: Jul. 2, 2015
DOI: 10.11648/j.ijcems.20150102.16      View  5218      Downloads  104
The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11.2) is observed in 90% with chronic myeloid leukemia (CML), while variant translocations are observed in 5 to 10%. In variant translocations, three way translocations are rare. We report two cases of three way translocation involving chromosomes 4, 9 and 22. Bone-marrow was subjected to conventional cytogenetic and fluorescence in situ hybridization (FISH) and three way translocation was identified as 46,XX,t(4;9;22)(p16;q34;q11.2). Although other chromosomes are frequently involved in three-way translocation, chromosome 4 is very rare event. So far five cases have been reported in the literature with translocation involving 4p16. We present a six case of chronic myeloid leukemia having 4p16 breakpoints whose clinical interpretation is still unclear.
Chronic Myeloid Leukemia, t(9;22), Three-Way Translocation Variant, FISH, Cytogenetic
To cite this article
Salil Vaniawala, Pratik Chavda, Ganesh Jori, Keur Patil, Pankaj Gadhia, Characterization of Three-Way Translocation [t(4;9;22)(p16;q34;q11.2)] in Chronic Myeloid Leukemia, International Journal of Clinical and Experimental Medical Sciences. Vol. 1, No. 2, 2015, pp. 30-34. doi: 10.11648/j.ijcems.20150102.16
Deininger MWN, Goldman JM, Melo JV. The molecular Biology of chronic myeloid leukemia. Blood 2000; 96: 3343-3356.
Johanssan B, Fioretos T, Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Hematologica 2002; 107:76-94.
Quintas-Cardama A, Crotes J. Molecular Biology of bcr-abl positive chronic myeloid leukemia, Blood 2009; 113(8): 1619-1630.
Hicks GA, Dewad GW. Incidence and type of variant Ph chromosomes in 378 patients with a Ph chromosome. Karyogram 1995; 11: 105 – 109.
Markovic VD, Bauman D, Bayani J, Al-Magharbi J, Kamel-Reid S, Sauire JA. Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations; a use of double fusion signal FISH and spectral karyotyping. Leukemia 2000; 14: 1157-1160.
Sawyers CL. Molecular consequences of the BCR-ABL translocation in chronic myeloid leukemia. Leukemia Lymphoma 1993; 22(2): 101-103.
Mitelman F, Johansson B, Mertens F. Data base of chromosome aberrations in cancer. http://cgap.nci.nih.gov/chromosomes/Mitelman: 2001.
Seabright M. A rapid banding technique for human chromosome. Lancet 1971; 2: 971-972.
International System for Human Cytogenetic Nomenclature (ISCN). S. Karger Pub. Inc. 2009.
Aliano S, Cirmena G, Fugazza G, Bruzzone R, Palermo C, Sessargo M. Standard and variantPhilaelphia translocation in a CML patients with different sensitivity to imatinib therapy. Leukemia Res. Report 2013; 2: 75-78.
Hagemeijer A, Bartram CR, Smit EME, Van Agthoven AS, Boostama D. Is the chromosome region 9q34 always involved in variant of the Ph1 Translocation?Can. Genet.Cytogent.1984; 13: 1-16.
Aventin A, Mecucci C, Louwagie A, Shutyers J, Van Den Berghe H, Bandeo de altaresolucion en el analisiscitogenetico de la leucemiamioloide Cronica con translocacioncompleja. Sangre. 1987; 32: 6-11.
Calabrese G, Stuppia L, Franchi PG, Pelia R, Martizio E, Liberati M, Spadano A, Di Loenzo R, Donti E, Antonucci A. Complex translocations of the Ph negative CML arise from similar mechanism as evidenced by FISH analysis Can. Genet.Cytogenet. 1994; 78(2): 153-159.
Gudi R, Elizalde A, Gogeneni SK, Macera MJ, Badillo A, Verma RS Characterization of a complex translocation [t(4;9;22)(p16;q32;q11) ] inChronic myelogenousleukemia by fluorescence in situ hybridization technique.Can. Genet.Cytogenet.1996; 90: 142-145.
Morel F, Herry A, Le Bris MI, Morice P, Bouguard P, Abgrall JF, Berthou C, De Braekekeer M. Contribution of fluorescence in situ hybridization analyses to the characterization of masked and complex Philadelphia chromosome translocation in CML. Can. Genet.Cytogenet. 2003; 147: 115-120.
Gorush M, Benn P, Li Z, Fang M. On the genesis and prognosis of variant translocations in CML.Can. Genet.Cytogenet 2007; 173: 97 – 106.
Reid AG, Huntly BJ, Grace C, Green AR, Nacheva EP. Survival implications of molecular heterogeneity in variant Philadelphia positive CML. Brit. J. Hematol 2003; 121: 419-427.
Socnen V, Viguic F, Lai JL, Andricux J, Corm S, Roche-Lestiennc C, Fi LMC. Group mechanisms of genesis of variant translocation in CML are not correlated with ABL or BCR deletion status or response to imatinib therapy. Can Genet. Cytogenet 2008; 182: 95 – 102.
De Brackeleer M. variant Philadelphia translocations in CML. Cytogenet. Cell Genet 1987; 44: 215 – 222.
Albano F, Anelli L, Zagaria A, Coccaro N, Casieri P, Russo Rossi A, et al. Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements. Molecular cancer 2010; 9: 120.
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