Cytogenetic, FISH, and molecular studies in a case of XXXX with karyotypic evolution.

@entity1 @entity2214 @entity1354 @entity588 @entity5 @entity1072 @entity876 @entity1892 @entity6492 @entity7513
We report the clinical, cytogenetic, fluorescence in situ hybridization (FISH) and molecular findings in a 54-yr-old male @entity1 diagnosed with @entity1072 ( @entity1072 ), who showed progression to a diffuse large @entity1892 ( @entity6492 ). Genetic studies were performed at diagnosis and during the @entity6492 ( @entity6492 ). A clonal karyotype with two dicentric chromosomes, psu dic(12,21)(q24;q10) and dic(17,18)( @entity1354 .2; @entity1354 .2), was found. Both rearrangements were confirmed by FISH. Molecular cytogenetics analysis using @entity876 probe showed monoallelic loss of this @entity5 suppressor gene in 43.8% and 77.3% of cells for the first and the second studies, respectively). In both studies, deletions of D13S319 (18% and 12% of cells) and D13S25 loci (13% and 12% of cells) at 13q14 were found. Polymerase chain reaction analysis showed the MBR/JH rearrangement of the @entity588 gene. FISH studies using LSI @entity588 / @entity7513 probe allowed quantifying the clonal cell population with this rearrangement (4% and 6.6% of cells at diagnosis and @entity6492 , respectively). To our knowledge, this is the first case with a psu dic(12,21) described in @entity1072 . The low percentage of cells with the 13q14 deletion and @entity588 / @entity7513 rearrangement suggests that they were secondary events that resulted from @entity2214 . Our @entity1 had a short survival (9 months) and a clear lack of response to several therapeutic agents, confirming the association of @entity876 gene deletion and karyotypic evolution with disease progression.
