Cytogenetic and Genome Research
Case Report
Novel Variant Ph Translocation t(9;22;11)(q34;q11.2;p15)inv(9)(p13q34) in Chronic Myeloid Leukemia Involving a One-Step MechanismBelli C.a · Alú M.F.a · Alfonso G.b · Bianchini M.a · Larripa I.aaDepartamento de Genética, Instituto de Investigaciones Hematológicas ‘Mariano R. Castex’ (IIHEMA), Academia Nacional de Medicina, y bServicio de Hematología, Sanatorio Nuestra Señora del Pilar, Buenos Aires, Argentina
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Article / Publication Details
Accepted: November 17, 2010
Published online: January 06, 2011
Issue release date: February 2011
Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0
ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)
For additional information: https://www.karger.com/CGR
Abstract
Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoietic stem cell characterized by the presence of a Philadelphia (Ph) chromosome. Less than 10% of patients present variant Ph chromosomes involving 1 or more additional chromosomes, other than chromosomes 9 and 22, with uncertain prognosis. There are mainly 1- or 2-step mechanisms proposed to explain the genesis of variant Ph chromosomes depending on whether the involved chromosomes are simultaneously broken and rejoined or if a standard t(9;22) occurs first. By combined standard cytogenetic and FISH analysis we detected a novel variant Ph translocation among chromosomes 9, 11 and 22 in a patient with CML without progression to an accelerated phase of the disease after 7 years, with the derivative chromosome 9 also having an acquired pericentric inversion. This novel case illustrates the use of FISH in metaphase to confirm a new rearrangement not previously described in variant Ph formation and that the present karyotype could have originated by a 1-step mechanism with 4 simultaneous breakages without deletion of ABL1.
© 2011 S. Karger AG, Basel
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References
- Baccarani M, Saglio G, Goldman J, Hochhaus A, Simonsson B, et al: Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European Leukemia Net. Blood 108:1809–1820 (2006).
- Bennour A, Sennana H, Laatiri M, Elloumi M, Khelif A, Saad A: Molecular cytogenetic characterization of variant Philadelphia translocation in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9. Cancer Genet Cytogenet 194:30–37 (2009).
-
Cianciulli AM, Marzano R, Merola R, Orlandi G, Petti MC, et al: Complex variant Philadelphia translocation involving the short arm of chromosome 9 in a case of chronic myeloid leukemia. Haematologica 89:ECR37 (2004).
- Daley G, Van Etten R, Baltimore D: Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. Science 247:824–830 (1990).
- El-Zimaity MM, 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 125:187–195 (2004).
- Giere I, Migliorini AM, Bengió R, Arias D, Slavutsky I, Larripa I: Cytogenetic and molecular studies of variant Ph’ translocations. Haematologica 85:435–437 (2000).
- Gorosu M, Benn P, Li Z, Fang M: On the genesis and prognosis of variant translocation in chronic myeloid leukemia. Cancer Genet Cytogenet 173:97–106 (2007).
- Hochhaus A, Kantarjian H, Baccarani M, Lipton JH, Apperley JF, et al: Dasatinib induces notable hematologic and cytogenetic responses in chronic-phase chronic myeloid leukemia after failure of imatinib therapy. Blood 109:2303–2309 (2007).
- Loncarevic I, Römer J, Starke H, Heller A, Bleck C, et al: Heterogenic molecular basis for loss of ABL1-BCR transcription: deletions in der(9)t(9;22) and variants of standard t(9;22) in BCR-ABL1-positive chronic myeloid leukemia. Genes Chromosomes Cancer 34:193–200 (2002).
-
Mitelman F, Johanson B, Mertens F (eds): Mitelman Database of Chromosome Aberrations in Cancer. http://www.cgap.ncbi.nih.gov/Chromosomes/Mitelman (2010).
- Naumann S, Decker HJ: Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia. Cancer Genet Cytogenet 147:18–22 (2003).
- 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 121:419–427 (2003).
- Richebourg S, Eclache V, Perot C, Portnoi MF, Van den Akker J, et al: Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy. Cancer Genet Cytogenet 182: 95–102 (2008).
- Shah NP, Kim DW, Kantarjian H, Rousselot P, Llacer PE, et al: Potent, transient inhibition of BCR-ABL with dasatinib 100 mg daily achieves rapid and durable cytogenetic responses and high transformation-free survival rates in chronic phase chronic myeloid leukemia patients with resistance, suboptimal response or intolerance to imatinib. Haematologica 95:232–240 (2010).
- So CC, Wan TS, Yip SF, Chan LC: A dual colour dual fusion fluorescence in situ hybridisation study on the genesis of complex variant translocations in chronic myelogenous leukaemia. Oncol Rep 19:1181–1184 (2008).
- Yao E, Sadamori N, Tomonaga Y, Matsunaga M, Tagawa M, et al: A new complex translocation in chronic myelogenous leukemia with monoblastic crisis. Cancer Genet Cytogenet 19:357–359 (1986).
Article / Publication Details
Accepted: November 17, 2010
Published online: January 06, 2011
Issue release date: February 2011
Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0
ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)
For additional information: https://www.karger.com/CGR
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