Lymphocyte predominance Hodgkin disease is characterized by recurrent genomic imbalances

Single-cell polymerase chain reaction (PCR) has been used as a tool to demo nstrate clonality and B-cell origin of Reed-Sternberg (RS) cells in Hodgkin disease (HD), An analogous approach was used to investigate genomic imbala nces in a (cyto)genetically poorly characterized subentity: lymphocyte pred ominance Hodgkin disease (LPHD), Nineteen cases of LPHD were selected for a comparative genomic hybridization (CGH) study, CGH was performed with dege nerate oligonucleotide primed-PCR (DOP-PCR)-amplified DNA from 4-5 microdis sected CD20(+) malignant cells. All analyzed cases revealed a high number o f genomic imbalances (average 10.8 per case), involving all chromosomes but the excluded 19, 22, and Y, indicating a high complexity of LPHD, The majo rity of detected aberrations were recurrent. Gain of 1, 2q, 3, 4q, 5q, 6, 8 q, 11q, 12q, and X, end loss of chromosome 17 were identified in 36.8% to 6 8.4% of the analyzed cases, Some of them have also been found in non-Hodgki n lymphoma (NHL), and possibly represent secondary changes associated with disease progression, Gain of 2q, 4q, 5q, 6, 11q, however, are much more rar ely observed in NHL and could be more specifically associated with LPHD. Pa rticularly interesting is a frequent overrepresentation of chromosome arm 6 q, a region usually deleted in NHL, Rearrangement of the BCL6 gene (3q27) d emonstrated by cytogenetics and fluorescence in situ hybridization in 2 cas es in this study suggests its contribution in pathogenesis of LPHD. In conc lusion, the data show a consistent occurrence of genomic alterations in LPH D and highlight genomic regions that might be relevant for development and/ or progression of this lymphoma entity, (Blood. 2001;97:1845-1853) (C) 2001 by The American Society of Hematology.