Journal List > Korean J Lab Med > v.30(6) > 1011699

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Korean J Lab Med. 2010 Dec;30(6):595-599. Korean.
Published online December 02, 2010.  https://doi.org/10.3343/kjlm.2010.30.6.595
Copyright © 2010 The Korean Society for Laboratory Medicine
A Case of t(3;3)(q21;q26.2) Associated with Severe Multilineage Dysplasia and Multi-drug Resistance in Blastic Crisis of Chronic Myelogenous Leukemia
Sun Ah Lee, M.D., Jihyang Lim, M.D., Myungshin Kim, M.D., Yonggoo Kim, M.D. and Kyungja Han, M.D.
Department of Laboratory Medicine, The Catholic University of Korea School of Medicine, Seoul, Korea.

Corresponding author: Jihyang Lim, M.D. Department of Laboratory Medicine, Seoul St. Mary's Hospital, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea. Tel: +82-2-2258-1643, Fax: +82-2-2258-1719, Email: ljh117@catholic.ac.kr
Received May 31, 2010; Revised September 10, 2010; Accepted October 07, 2010.

Abstract

The t(3;3)(q21;q26.2) is known to be mainly observed in hematologic myeloid malignancies, as a form of 3q21q26 syndrome. Cytogenetic abnormalities of 3q21q26 syndrome result in RPN1-EVI1 fusion transcripts involving ecotropic viral integration site-1 (EVI1) at 3q26.2 and ribophorin I (RPN1) at 3q21, and the fusion transcripts play an important role in leukemogenesis and disease progression. They are usually associated with dysplasia, especially of megakaryocytes. Patients with these cytogenetic abnormalities show extremely poor prognosis even with aggressive anti-leukemic therapy. We report a case of blastic crisis of CML with both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) and associated severe multilineage dysplasia. The patient showed a poor response to imatinib, dasatinib and aggressive induction therapy. When both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) are observed in cases of leukemia with increased blasts, they are best considered as aggressive phases of CML with t(3;3)(q21;q26.2), rather than AML with t(9;22)(q34;q11.2) by 2008 WHO classification.

Keywords: t(3;3)(q21;q26.2); 3q21q26 syndrome; CML

Figures


 Fig. 1
Bone marrow aspirate and biopsy reveal various dyspoietic changes. Blasts (A), erythroid precursors (B, C), granulocytes (D), megakaryocytes (E-H). (A-F, Wright-Giemsa stain, ×1,000; G, hematoxylin and eosin stain, ×400; H, CD61 immunohistochemical stain, ×400).
Click for larger image


Fig. 2
Karyogram of G-banded bone marrow metaphase cells showing 46,XY,t(3;3)(q21;q26.2),t(9;22)(q34;q11.2).
Click for larger image

Tables


 Table 1
Clinical and hematological characteristics in CML patients with both t(9;22)(q34;q11.2) and t(3;3)(q21;q26.2)
Click for larger image

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