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Association of 3q21q26 syndrome and late-appearing Philadelphia chromosome in acute myeloid leukemia

Leukemia volume 22, pages 877–878 (2008)Cite this article

Structural abnormalities in the long arm of chromosome 3 have been detected in 7–10% of patients with acute myelogenous leukemia (AML) or myelodysplastic syndromes. Patients with the 3q21q26 syndrome, an AML or myelodysplastic syndromes with chromosomal translocations or inversions that involve bands 3q21 and 3q26.2, exhibit specific clinical features including elevated platelet counts, hyperplasia and dysplasia of megakaryocytes, association with -7 or 7q-, refractoriness to therapy and poor prognosis.1, 2 In these cases, the EVI1 (ecotropic virus integration site-1) gene, which maps to 3q26.2, is typically activated.3 The late appearance of a Philadelphia (Ph) chromosome in AML has been only anecdotally reported.4 We report a patient with AML and 3q21q26 syndrome who developed a late-appearing Ph chromosome shortly after induction chemotherapy with cytarabine and idarubicin.

A 52-year-old man underwent bone marrow aspiration and biopsy in July 2006 to evaluate worsening anemia over the previous 4 months and a peripheral white blood cell (WBC) count of 4.6 × 109 l−1 with 5% blasts. A diagnosis of AML-M2 (French—American–British [FAB] classification) was made, with 59% myeloid blasts. The patient received therapy with intravenous daunorubicin and cytarabine on a 7+3 regimen for two cycles. After a follow-up, bone marrow analysis demonstrated 13% blasts, he received gemtuzumab ozogamicin (Myelotarg) for two cycles. Subsequent bone marrow aspiration showed 84% blasts.

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Authors and Affiliations

  1. Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    A Quintás-Cardama, J Cortes & H Kantarjian

  2. Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    D L Gibbons

  3. Department of Cytogenetics, City of Hope National Medical Center, Duarte, CA, USA

    D Bobadilla & M L Slovak

  4. Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    L V Abruzzo

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  1. A Quintás-Cardama
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  2. D L Gibbons
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  4. D Bobadilla
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  5. M L Slovak
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  6. H Kantarjian
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  7. L V Abruzzo
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Correspondence to A Quintás-Cardama.

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Quintás-Cardama, A., Gibbons, D., Cortes, J. et al. Association of 3q21q26 syndrome and late-appearing Philadelphia chromosome in acute myeloid leukemia. Leukemia 22, 877–878 (2008). https://doi.org/10.1038/sj.leu.2404981

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