Complex translocation involving four chromosomes in a novel Philadelphia-positive chronic myeloid leukemia case

Al-Achkar,Walid; Wafa,Abdulsamad; Liehr,Thomas

doi:10.3892/ol.2011.257

Complex translocation involving four chromosomes in a novel Philadelphia-positive chronic myeloid leukemia case

Authors:
- Walid Al-Achkar
- Abdulsamad Wafa
- Thomas Liehr
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Affiliations: Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria, Jena University Hospital, Institute of Human Genetics, Jena, Germany
Published online on: January 21, 2011 https://doi.org/10.3892/ol.2011.257
Pages: 273-276

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Abstract

The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. Approximately 5-10% of these patients show complex translocations involving a third chromosome in addition to chromosomes 9 and 22. Since the majority of CML cases are currently treated with imatinib, variant rearrangements in general have no specific prognostic significance, although the mechanisms involved in resistance to therapy have yet to be investigated. This study evalutated a CML case with complex chromosomal aberrations not previously observed. A four chromosome translocation involving chromosomal regions such as 12q24.2-24.31 and 16p11.2 besides 9q34 and 22q11 were characterized in detail by array-proven multicolor banding (aMCB). A beneficial response to imatinib was noted in the patient.

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1	Johansson B, Fioretos T and Mitelman F: Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 107:76–94. 2002. View Article : Google Scholar : PubMed/NCBI
2	Shtivelman E, Lifshitz B, Gale RP and Canaani E: Fused transcript of abl and bcr genes in chronic myelogenous leukemia. Nature. 315:550–554. 1985. View Article : Google Scholar : PubMed/NCBI
3	La Starza R, Testoni N, Lafage-Pochitaloff M, Ruggeri D, Ottaviani E, Perla G, Martelli MF, Marynen P and Mecucci C: Complex variant Philadelphia translocations involving the short arm of chromosome 6 in chronic myeloid leukemia. Haematologica. 87:143–147. 2002.
4	Todorić-Zivanović B, Marisavljević D, Surace C, Cemerikić V, Marković O, Krtolica K, Tatomirović Z, Cikota B, Magić Z and Rocchi M: A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1). Cancer Genet Cytogenet. 166:180–185. 2006.PubMed/NCBI
5	Naumann S and Decker HJ: Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia. Cancer Genet Cytogenet. 147:18–22. 2003. View Article : Google Scholar : PubMed/NCBI
6	Fitzgerald PH and Morris CM: Complex chromosomal translocations in the Philadelphia chromosome leukemias. Serial translocations or a concerted genomic rearrangement? Cancer Genet Cytogenet. 57:143–151. 1991. View Article : Google Scholar
7	Griffen J: The biology of signal transduction The biology of signal transduction inhibition: basic science to novel therapies. Semin Oncol. 28:3–8. 2001. View Article : Google Scholar : PubMed/NCBI
8	Kantarjian H, Sawyers C, Hochhaus A, Guilhot F, Schiffer C, Gambacorti-Passerini C, Niederwieser D, Resta D, Capdeville R, Zoellner U, Talpaz M, Druker B, Goldman J, O’Brien SG, Russell N, Fischer T, Ottmann O, Cony-Makhoul P, Facon T, Stone R, Miller C, Tallman M, Brown R, Schuster M, Loughran T, Gratwohl A, Mandelli F, Saglio G, Lazzarino M, Russo D, Baccarani M and Morra E: International STI571 CML Study Group: Hematologic and cytogenetic responses to imatinib mesylate in chronic myelogenous leukemia. N Engl J Med. 346:645–652. 2002. View Article : Google Scholar : PubMed/NCBI
9	Cortes JE, Talpaz M, Giles F, O’Brien S, Rios MB, Shan J, Garcia-Manero G, Faderl S, Thomas DA, Wierda W, Ferrajoli A, Jeha S and Kantarjian HM: Prognostic significance of cytogenetic clonal evolution in patients with chronic myelogenous leukemia on imatinib mesylate therapy. Blood. 101:3794–3800. 2003. View Article : Google Scholar : PubMed/NCBI
10	Claussen U, Michel S, Mühlig P, Westermann M, Grummt UW, Kromeyer-Hauschild K and Liehr T: Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis. Cytogenet Genome Res. 98:136–146. 2002. View Article : Google Scholar : PubMed/NCBI
11	Shaffer L, Slovak M and Cambell L; ISCN (2009). An International System for Human Cytogenetic Nomenclature. S. Karger; Basel: 2009
12	Al-Achkar W, Wafa A and Nweder MS: A complex translocation t(5;9;22) in Philadelphia cells involving the short arm of chromosome 5 in a case of chronic myelogenous leukemia. J Exp Clin Cancer Res. 26:411–415. 2007.PubMed/NCBI
13	Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T and Kosyakova N: Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem. 56:487–493. 2008. View Article : Google Scholar : PubMed/NCBI
14	Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A and Claussen U: Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med. 9:335–339. 2002.PubMed/NCBI
15	Mitelman F, Johansson B and Mertens F: Mitelman Database of Chromosome Aberrations in Cancer. 2009, http://cgap.nci.nih.gov/Chromosomes/Mitelman.
16	Nacheva E, Holloway T, Brown K, Bloxham D and Green AR: Philadelphia-negative chronic myeloid leukaemia: detection by FISH of BCR-ABL fusion gene localized either to chromosome 9 or chromosome 22. Br J Haematol. 87:409–412. 1994. View Article : Google Scholar : PubMed/NCBI
17	Reid AG, Huntly BJP, Grace C, Green AR and Nacheva EP: Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia. Br J Haematol. 121:419–427. 2003. View Article : Google Scholar : PubMed/NCBI