T-cell receptor J beta I/J beta II locus rearrangements concurring with a complex chromosomal aberration in an HTLV-1 positive T-cell lymphoma.

Human T-lymphotropic virus type I (HTLV-1) integration has been associated with the development of adult T-cell leukemia/lymphoma (ATL). Recently, a correlation between T-cell receptor (TCR) gene rearrangements and chromosomal aberrations has been implicated in this leukemia. We present a case of HTLV-1 infected adult T-cell lymphoma that initially presented with a normal karyotype and germline J beta I/J beta II loci. As the disease evolved to the aggressive stage, a complex chromosomal rearrangement with a duplication of chromosome 6p23-->pter translocated to a derivative chromosome 16, was identified by molecular cytogenetic techniques. The nature of this complex abnormality would have been difficult to determine if only conventional banding techniques were performed. Rearrangement involving one J beta allele was also detected at that time. After initiation of chemotherapy, no germline J beta loci were detected, suggesting a possible second rearrangement involving this locus that was homologous. Although no known immune response genes are located at the breakpoints involved in this abnormality, the chromosomal aberration concurred with the initial J beta rearrangement.