Cancer Genetics and Cytogenetics 152 (2004) 141–145 Short communication IGH gene involvement in two cases of acute lymphoblastic leukemia with t(14;14)(q11;q32) identified by sequential R-banding and fluorescence in situ hybridization Shihe Liu a , Lijin Bo a , Xuping Liu a , Chengwen Li a , Shuang Qin a , Jianxiang Wang b, * a Laboratory of Genetics, Institute of Hematology, Chinese Academy of Medical Sciences, 288 Nanjing Road, Tianjin, 300020, People’s Republic of China b Laboratory of Hematological Malignancy, State Key Laboratory of Experimental Hematology, Institute of Hematology, Chinese Academy of Medical Sciences, 288 Nanjing Road, Tianjin, 300020, People’s Republic of China Received 20 August 2003; received in revised form 29 October 2003; accepted 11 November 2003 Abstract Translocation (14;14)(q11;q32) or inv(14)(q11q32) is a common cytogenetic aberration in T-cell leukemia associated with ataxia-telangiectasia (AT); however, rare reports have indicated that this abnormality also occurs in B-lineage acute lymphoblastic leukemia (ALL). We report here two cases with common-type ALL exhibiting the chromosomal aberration t(14;14)(q11;q32). The immu- nophenotype showed the blasts were positive for CD9, CD10, CD38, CD22, and CD15 in case 1 and positive for CD2, CD9, CD10, CD19, CD38, CD20, and CD22 in case 2, but negative for CD3, CD4, and CD8 expression in both cases. The cytogenetic analysis revealed del(6)(q22), and t(14;14)(q11;q32) in case 1 and t(14;14)(q11;q32),+mar in case 2. Fluorescence in situ hybridization (FISH) and sequential R-banding FISH assay with dual-color break-apart IGH probe confirmed that t(14;14)(q11;q32) involved the IGH gene in our cases. The results indicate that the t(14;14)(q11;q32) involving IGH at 14q32 in B-lineage ALL in our cases differ from those reported to involve the TCL1 gene on 14q32.1 in T-cell leukemia associated with AT. Sequential R-banding and FISH provide precise analysis of alterations of chromosomes and genes involved.  2004 Elsevier Inc. All rights reserved. 1. Introduction Nonrandom chromosomal abnormalities involving 14q32 are often observed in lymphoid malignancies and frequently involve the immunoglobulin heavy chain (IGH) gene locus [1–9]. It has been reported that in 20–40% cases of multiple myeloma (MM) the IGH locus is found to be rearranged by chromosome analysis, whereas fluorescence in situ hybrid- ization (FISH) detects the IGH rearrangement in 75% of MM cases [2–4]. More than 20 translocation partners with 14q32 have been identified, confirming that IGH is the gene most frequently rearranged in these diseases. Clinically, each translocation involving 14q32 has its unique biological char- acteristics and is usually associated with certain specific * Correspondingauthor. Tel.: +86-22-27223821; fax: 86-22-27306542. E-mail address: wangjx@hotmail.com (J. Wang). 0165-4608/04/$ – see front matter  2004 Elsevier Inc. All rights reserved. doi:10.1016/j.cancergencyto.2003.11.008 pattern of lymphoid malignancies [10–17]. For example, t(8;14)(q24;q32) is frequently associated with Burkitt lymphoma or acute lymphoblastic leukemia (ALL) L3 type [10]; t(11;14)(q13;q32) is often observed in mantle cell lymphoma, chronic lymphoblastic leukemia and MM [11,12]; and t(14;18) is related to follicular lymphoma and diffuse large B-cell lymphoma [13,14]. The t(14;14) (q11;q32) or inv(14)(q11q32) has been detected with high frequency in ataxia-telangiectasia (AT), accounting for 7– 10% of all AT cases, and in T-lineage lymphoid neoplasias; it is considered to be a characteristic chromosomal aberration associated with T-cell leukemia secondary to AT [18–21]. The molecular profile of this translocation has been eluci- dated and shown to involve the TCRA gene on 14q11, a common locus involved in T-cell leukemias; however, the other affected gene in this abnormality is not IGH on 14q32.3 but the TCL1 oncogene on 14q32.1 centromeric to IGH gene [19]. It has been shown that overexpression of TCL1 plays a crucial role in leukemogenesis [20]; however, this anomaly