Abstract
Chronic myelogenous leukemia (CML) is a common myeloproliferative disease that is characterized by the clonal expansion of marrow stem cells, and is associated with the Philadelphia chromosome. As the disease progresses, additional chromosome abnormalities may arise. The prognostic impact of secondary chromosomal abnormalities in CML is complex, heterogeneous, and sometimes related to previous treatment. Here, we describe a CML patient in lymphoid blast crisis associated with a new chromosomal abnormality identified, dic(7;12)(p12.21;p12.2) and i(12)(q10) using classical cytogenetics and spectral karyotype analysis. To the best of our knowledge, this is the first report of t(7;12)(p11.1;q11.1) and i(12)(q10) in a CML patient with lymphoid evolution.
References
Calabretta B, Perrotti D. The biology of CML blast crisis. Blood. 2004;103:4010–22.
Goldman JM, Melo JV. Chronic myeloid leukemia: advances in biology and new approaches to treatment. N Engl J Med. 2003;349:1451–64.
Johansson B, Fioretos T, Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 2002;107:76–94.
Hagemeijer A. Chromosomal abnormalities in CML. Baillieres Clin Haematol. 1987;1:963–81.
Zhao L, Khan Z, Hayes L, Glassman A. Interphase fluorescence in situ hybridization analysis: a study using centromeric probes 7, 8 and 12. Ann Clin Lab Sci. 1998;28:51–6.
Ilaria RL Jr. Pathobiology of lymphoid and myeloid blast crisis and management issues. Hematology Am Soc Hematol Educ Program. 2005;188–94.
Hehlmann R, Heimpel H, Hasford J, Kolb HJ, Pralle H, Hossfeld DK, Queisser W, Löffler H, Hochhaus A, Heinze B, et al. Randomized comparison of interferon-alpha with bussulphan and hydroxyurea in chronic myelogenous leukemia. The German CML Study Group. Blood. 1994;84(12):4064–77.
Johansson B, Mertens F, Mitelman F. Geographic heterogeneity of neoplasia-associated chromosome aberrations. Genes Chromosom Cancer. 1991;3(1):1–7.
Shaffer LG, Slovak ML, Campbell LJ, editors. ISCN (2009): an international system for human cytogenetic nomenclature. Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger; 2009.
Wang Y, Hopwood VL, Hu P, Lennon A, Osterberger J, Glassman A. Determination of secondary chromosomal aberrations of chronic myelocytic leukemia. Cancer Genet Cytogenet. 2004;153(1):53–6.
Watmore AE, Potter AM, Sokol RJ, Wood JK. Value of cytogenetic studies in prediction of acute phase CML. Cancer Genet Cytogenet. 1985;14(3–4):293–301.
Swolin B, Weinfeld A, Westin J, Waldenström J, Magnusson B. Karyotypic evolution in Ph-positive chronic myeloid leukemia in relation to management and disease progression. Cancer Genet Cytogenet. 1985;18(1):65–79.
Schröck E, et al. Multicolor spectral karyotyping of human chromosomes. Science. 1996;273:494–7.
Veldman T, Vignon C, Schrock E, Rowley JD, Ried T. Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nat Genet. 1997;15:406–10.
Oliveira FM, Lucena-Araújo AR, Leite-Cueva SD, Santos GA, Rego EM, Falcão RP. Segmental amplification of MLL gene associated with high expression of AURKA and AURKB genes in a case of acute monoblastic leukemia with complex karyotype. Cancer Genet Cytogenet. 2010;198(1):62–5.
Oliveira FM, Falcão RP, de Figueiredo Pontes LL, Simões BP, Tone LG. Insertion (15;14)(q22;q13q32) in a case of Ph+ ALL. Cancer Genet Cytogenet. 2008;185(1):65–7.
Johnson E, Cotter FE. Monosomy 7 and 7q associated with myeloid malignancy. Blood Rev. 1997;11:46–55.
Lam DH, Aplan PD. NUP98 gene fusions in hematologic malignancies. Leukemia. 2001;15:1689–95.
Bohlander SK. ETV6: a versatile player in leukemogenesis. Semin Cancer Biol. 2005;15:162–74.
Boultwood J, Peniket A, Watkins F, Shepherd P, McGale P, Richards S, Fidler C, Littlewood TJ, Wainscoat JS. Telomere length shortening in chronic myelogenous leukemia is associated with reduced time to accelerated phase. Blood. 2000;96(1):358–61.
Boultwood J, Fidler C, Shepherd P, Watkins F, Snowball J, Haynes S, Kusec R, Gaiger A, Littlewood TJ, Peniket AJ, Wainscoat JS. Telomere length shortening is associated with disease evolution in chronic myelogenous leukemia. Am J Hematol. 1999;61(1):5–9.
Keller G, Brassat U, Braig M, Heim D, Wege H, Brümmendorf TH. Telomeres and telomerase in chronic myeloid leukaemia: impact for pathogenesis, disease progression and targeted therapy. Hematol Oncol. 2009;27(3):123–9.
Acknowledgments
This investigation was supported by FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo (Proc. 07/52462-7) and the National Institute of Science and Technology in Stem Cell and Cell Therapy, Ribeirão Preto, Brazil (Proc. 573754/2008-0).
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There is no conflict of interest. All authors disclose any financial and personal relationships with other people and organizations.
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de Oliveira, F.M., de Carvalho Palma, L., Falcão, R.P. et al. A new dic(7;12)(p12.21;p12.2) and i(12)(q10) during the lymphoid blast crisis of patient with Ph+ chronic myeloid leukemia. Med Oncol 29, 2332–2336 (2012). https://doi.org/10.1007/s12032-011-0142-3
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DOI: https://doi.org/10.1007/s12032-011-0142-3