Mj. Macera et al., 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/, Leukemia, 8(3), 1994, pp. 420-424
Human T-lymphotropic virus type I (HTLV-1) integration has been associ
ated with the development of adult T-cell leukemia/lymphoma (ATL). Rec
ently, 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 loc
i. As the disease evolved to the aggressive stage, a complex chromosom
al rearrangement with a duplication of chromosome 6p23-->pter transloc
ated to a derivative chromosome 16, was identified by molecularcytogen
etic techniques. The nature of this complex abnormality would have bee
n 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 lo
ci were detected, suggesting a possible second rearrangement involving
this locus that was homologous.Although no known immune response gene
s are located at the breakpoints involved in this abnormality, the chr
omosomal aberration concurred with the initial J beta rearrangement.