Simultaneous translocation of both TCR Loci (14q11) with rare partner loci (Xq22 and 12p13) in a case of T-lymphoblastic leukemia

2012-05-01 15:51:24

Annals of Laboratory Medicine; 2012 May; 32(3):220-4

Dong-Hee Kang, Se Hyung Kim, Jeong Woo Jun, Yong-Wha Lee, Hee Bong Shin, Jee Young Ahn, Dae Sik Hong, You Kyoung Lee, and Byung Ryul Jeon


T-lymphoblastic leukemia (T-cell acute lymphoblastic leukemia [T-ALL]), a highly malignant cancer derived from T-cell progenitors, comprises 15% of acute lymphoblastic leukemia cases. T-ALL is a genetically heterogeneous disease with translocations that usually involve recombination between T-cell receptor (TCR) loci and several different partner genes. Most of these translocations result in deregulation of the partner genes that are located near TCR regulatory elements. The most common partner genes are HOX11, HOX11L2, MYC, and TAL1. Consequently, these partner genes, rather than the TCR, may play important roles in T-cell leukemogenesis. Translocations involving TCR loci are found in about 35% of T-ALL cases, and unidentified partner genes are involved in 5-10% of cases. This report presents a case of T-ALL in which the leukemic cells showed the simultaneous chromosomal abnormalities t(X;14)(q22;q11.2) and t(12;14)(p13;q11.2). To our knowledge, this simultaneous translocation has not been previously reported, and Xq22 has been reported as a partner locus only once in childhood T-ALL.

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