alexa 5q- Syndrome in Transformation to the Philadelphia Chromosome Positive Acute Myeloblastic Leukemia
ISSN: 2157-2518

Journal of Carcinogenesis & Mutagenesis
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Case Report

5q- Syndrome in Transformation to the Philadelphia Chromosome Positive Acute Myeloblastic Leukemia

Ana Vidovic1,2*, Gradimir Jankovic1,2, Nada Suvajdžic Vukovic1,2, Ziv Radisavljevic3, Jelica Jovanovic1, Marija Dencic Fekete1, Biljana TodoricŽivanovic4, Irena Ðunic1, Jelena Bila1,2, Nataša Colovic1,2 and Dragica Tomin1,2

1Clinic of Hematology, Clinical Centre of Serbia, Belgrade, Serbia

2Medical Faculty, University of Belgrade, Serbia

3Brigham and Women’s Hospital, Harvard Medical School, Boston, USA

4Military Medical Academy, Belgrade, Serbia

*Corresponding Author:
Ana Vidovic, MD., PhD
Clinic for Hematology, Clinical Center of Serbia
Koste Todorovic 2, 11000 Belgrade, Serbia
Tel: +381638151427
Fax: +381113065112
E-mail: [email protected]

Received date: January 09, 2014; Accepted date: February 18, 2014; Published date: February 25, 2014

Citation: Vidovic A, Jankovic G, Vukovic S N, Radisavljevic Z, Jovanovic J, et al (2014) 5q- Syndrome in Transformation to the Philadelphia Chromosome Positive Acute Myeloblastic Leukemia. Carcinog Mutagen 5:164. doi: 10.4172/2157-2518.1000164

Copyright: © 2014 Vidovic A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Background: A rare 5q- syndrome subtype (OMIM:153550) of the myelodysplastic syndrome (MDS) evolved to the Philadelphia (Ph) chromosome positive acute myeloblastic leukemia (AML) is presented. The MDS is an acquired clonal stem cell disorder frequently associated with a variety of chromosomal abnormalities. The most common karyotype abnormalities in MDS are del(5q), -7 and +8. The t(9;22)(q34;q11) results in the formation of the Ph chromosome and generates an active chimerical BCR-ABL tyrosine kinase most commonly associated with chronic myelogenous leukemia (CML) and adult precursor B-acute lymphoblastic leukemia (B-ALL). The Ph chromosome positive MDS and AML are uncommon with only 1-2% of newly diagnosed cases. Case report: We present a 72-year old woman with MDS. The HG-banding technique applied on unstimulated bone marrow cells showed 46,XX,del(5)(q13q33)[10]/46,XX. Ten months later, the white blood cell (WBC) count increased to 72×109/l, with 60% of myeloblasts in the formula. The bone marrow aspirate was hypercellular with 50% blasts. The cytogenetic study demonstrated the presence of Ph chromosome together with the initial del(5q) in the same cellular clone. Chemotherapy with hydroxyurea and low-dose cytosine arabinoside was followed by an increase in WBC count to 98×109/l. The dosage of cytosine arabinoside was escalated to 100 mg/m2, for 7 days resulting in a drop in the WBC count to 12×109/l. The follow-up bone marrow aspirations showed a further progression of disease with >70% of myeloblasts in the myelogram. The patient lived 10 months after the initial diagnosis of MDS was made and another 4 months after the diagnosis of secondary AML. Conclusion: The karyotype evolution from the solely 5q- to the 5q- and Ph-positive clone in the MDS in transformation to secondary AML (sAML) is a rare event. To our knowledge, this is a second such case reported in the literature. Based on current literature, we discuss possible links between the 5q- syndrome, BCR/ABL-negative chronic myeloproliferative neoplasms and the BCR/ABL-positive leukemias.

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