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Annals of Laboratory Medicine
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30(03) 239-243
A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21)
Ji-Eun Kim, M.D.11, Kwang-Sook Woo, M.D.1, Kyung-Eun Kim, M.D.1, Sung-Hyun Kim, M.D.2, Joo-In Park, M.D.3, Lisa G. Shaffer, Ph.D.4, and Jin-Yeong Han, M.D.1,3
Departments of Laboratory Medicine1 and Internal Medicine2, Dong-A University College of Medicine, Busan; Medical Research Center for Cancer Molecular Therapy3, Dong-A University, Busan, Korea; Signature Genomic Laboratories4, Spokane, WA, USA
Patients with ALL rarely present with t(12;17)(p13;q21) as the primary clonal abnormality; this abnormality is associated with the expression of myeloid antigens. In this study, we have reported presumably the first case of this chromosomal abnormality in Korea, thereby facilitating the delineation of a distinct subtype of ALL. A 57-yr-old woman was referred to our hospital because of pancytopenia. Peripheral blood examination showed 55% blasts. The bone marrow was markedly hypercellular, and about 82.4% of all nucleated cells were blasts. The results of immunophenotyping and cytochemical staining suggested early precursor B-ALL. Cytogenetic analysis of the bone marrow cells showed a complex karyotype, including a reciprocal translocation between the short arm of chromosome 12 and the long arm of chromosome 17, t(12;17)(p13;q21). Data from array comparative genomic hybridization were almost consistent with the cytogenetic findings. (Korean J Lab Med 2010;30:239-43)
Korean J Lab Med 2010 Jun; 30(03) 239-243
Keyword : ALL, Balanced translocation, Microarray