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No. 45 (PH 11)<br />

T-cell Acute Lymphoblastic Leukemia with Chromosomal Rearrangements<br />

Involving the Immunoglobulin Heavy Chain Breakpoint at Band 14q32<br />

Joonhong Park 1 , Myungshin Kim 1 , Jihyang Lim 1 , Yonggoo Kim 1 , Kyungja Han 1 , and Seok Lee 2<br />

Department of Laboratory Medicine 1 , Division of Hematology 2 , Department of Internal Medicine, The<br />

Catholic University of Korea, Seoul, Korea<br />

T-cell acute lymphoblastic leukemia (T-ALL), a malignant proliferation of T-lymphoid blasts, represents<br />

15% of acute lymphoblastic leukemia. In contrast with B-cell ALL, patients with T-ALL have different<br />

chromosomal abnormalities and appear to have an unfavorable prognosis, leading to more intensive<br />

treatment. Chromosomal rearrangements in T-ALL usually involve breakpoints in bands where the<br />

T-cell receptor (TCR) genes are located; these are bands 14q11 (TCR-α and -δ genes), 7q32-36<br />

(TCR-βgene), and 7p15 (TCR-γ gene). Other chromosomal changes, specific or not of T-ALL, have also<br />

been observed. We report T-ALL with t(8;14)(q24.1;q32) similar to that seen in Burkett’s lymphoma.<br />

Flow cytometric analysis of bone marrow revealed CD2, CD3, CD7, cytoplasmic CD3, CD34, HLA-DR,<br />

CD13, and CD117. The phenotype was suggestive of T-ALL. RT-PCR screening <strong>for</strong> leukemia-related<br />

fusion transcripts (HemaVision; Bio-Rad Laboratories, CA) was negative. Mitoses were obtained only<br />

from spontaneously dividing cells in the absence of mitogens; 25 of the 30 metaphases analyzed were<br />

chromosomally abnormal and had a der(14)t(8;14)(q24.1;q32). Disruption of the MYC gene which<br />

resulted in a one fusion, one green, and one orange signal pattern was detected by MYC dual-color<br />

break-apart probe (Abbott Molecular, IL) PCR-based B-cell and T-cell clonality (Ig and TCR gene<br />

rearrangement) assays was studied by the BIOMED-2 multiplex Ig/TCRB PCR assay (InVivoScribe,<br />

CA) but did not detected any clonal immunoglobulin and TCR rearrangements. Although abnormalities<br />

involving 14q32 are characteristic of B cell disorders, they have also been described in T cell<br />

malignancies, suggesting that genes transcribed in T cells and/or oncogenic sequences significant in T<br />

cell neoplasia are present in 14q32.<br />

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