%0 Journal Article
%T Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML
%A Cigdem Aydin
%A Zafer Cetin
%A Ozan Salim
%A Orhan Kemal Yucel
%A Levent Undar
%A Sibel Berker Karauzum
%J Case Reports in Genetics
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/582016
%X Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which is characterized by the presence of the classical or variant Philadelphia translocations. During the progression to blastic phase of the disease secondary chromosomal abnormalities may emerge. Such secondary chromosomal abnormalities are nonrandom, the more frequent ones being trisomy 8 and 19, supernumerary i(17q), and extra Philadelphia chromosomes. Furthermore, a minor percentage of the patients may acquire different secondary chromosomal abnormalities including translocations between other chromosomes. We report here a patient with Ph+ CML presenting secondary chromosomal abnormalities including t(4;11)(q21;q23), t(3;3)(q29;q23) and t(11;18)(q10;q10) during the course of CML progression. 1. Introduction Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disorder of primitive hematopoietic stem cells, which is characterized by the presence of the classical or variant Philadelphia translocations. The appearance of secondary chromosomal abnormalities in CML patients usually is considered as the hallmark of the blastic phase. Around 80% of patients in blast crisis show chromosome abnormalities in addition to the Ph chromosome, and 75% of these show at least one of +8, double Philadelphia chromosome, or i(17q) [1]. However, a minor percentage of the patients show different secondary chromosomal abnormalities. We report here a patient with Ph+ CML presenting secondary chromosomal abnormalities including t(4;11)(q21;q23), t(3;3)(q29;q23), and t(11;18)(q10;q10). 2. Case Report In July 2002, a 55-year-old male patient presented with abdominal discomfort, splenomegaly, and leukocytosis (120 ¡Á 109£¿cells/L). Bone marrow aspiration and biopsy bone marrow were consistent with chronic myelogenous leukemia (CML) with less than 5% blasts, and he was diagnosed with chronic phase CML. Hydroxyurea followed by interferon alfa plus low dose cytarabine was given between 2002 and 2004. In 2004, specific fusion gene BCR-ABL was detected in peripheral blood sample by real-time polymerase chain reaction assay. Treatment was switched to imatinib mesylate (400£¿mg/day), when available in Turkey. Although hematological remission was achieved at the third month of therapy, cytogenetic and molecular remissions could not be reached at the end of the first year of therapy. Follow-up cytogenetic analysis in 2008 revealed the following complex chromosomal abnormalities: 46, XY, t(4;11)(q21;q23), t(9;22)(q34;q11), and t(11;18)(q10;q10)[13]. The patient was accepted as accelerated phase CML
%U http://www.hindawi.com/journals/crig/2014/582016/