PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.
We present an extensive characterization of 10 B-cell lymphomas with a t(9;14)(p13;q32). The presence of the PAX5/IGH gene rearrangement was demonstrated by fluorescence in situ hybridization (FISH) using a validated probe set, whereas complex karyotypic changes were reassessed by multiplex-FISH (M-FISH). Pathologic and clinical review revealed the presence of this rearrangement in 4 histiocyte-rich, T-cell-rich B-cell lymphomas (HRTR-BCLs) and 2 posttransplantation diffuse large B-cell lymphomas (PTLD-DLBCLs). In contrast to initial observations describing this translocation in lymphoplasmacytic lymphoma (LPL) and LPL-derived large B-cell lymphoma, our data showed a wide morphologic and clinical spectrum associated with the PAX5/IGH rearrangement, pointing to an association between this aberration and a subset of de novo DLBCLs presenting with advanced disease and adverse prognosis. In addition, the recurrent incidence of this rearrangement in both HRTR-BCL (4 cases) and PTLD-DLBCL (2 cases) was previously unrecognized and is intriguing.
Poppe
Bruce
B
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
De Paepe
Pascale
P
Michaux
Lucienne
L
Dastugue
Nicole
N
Bastard
Christian
C
Herens
Christian
C
Moreau
Els
E
Cavazzini
Francesco
F
Yigit
Nurten
N
Van Limbergen
Heidi
H
De Paepe
Anne
A
Praet
Marleen
M
De Wolf-Peeters
Chris
C
Wlodarska
Iwona
I
Speleman
Frank
F
D000368:Aged; D000369:Aged, 80 and over; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007621:Karyotyping; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D051757:PAX5 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human; D014157:Transcription Factors