A novel acquired cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) with a submicroscopic deletion at 11p14.3 in an adult with XXXX .

@entity1712 @entity1 @entity675 @entity1861 @entity71858 @entity66 @entity706 @entity368 @entity5 @entity5441 @entity3820 @entity1778 @entity2008 @entity7167
UNASSIGNED: @entity5441 ( @entity5441 ) is a clinically and pathologically heterogeneous disease entity. It is characterized by persistent @entity1712 and organ damage after excluding other causes. Clonal @entity1712 is distinguished from idiopathic @entity1712 by the presence of histologic, cytogenetic, or molecular evidence of an underlying @entity5 . There are two distinct subcategories of clonal @entity1712 : chronic @entity1778 , not otherwise specified and @entity706 with @entity1712 and mutations involving platelet-derived growth factor receptor a/b or @entity7167 . More than 50% of @entity5441 are without knowledge of underlying pathogenic molecular pathways. Here we examined a @entity5441 @entity1 by oligo-based aCGH analysis and molecular cytogenetic methods. Examination for the common @entity1712 -related cytogenetic abnormalities involving the genes @entity675 , @entity3820 , and @entity7167 together with @entity1861 fusion gene was negative. Cytogenetic analysis and multi-color FISH analysis revealed a novel cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2). By oaCGH analysis we could not find any copy number changes related to the cytogenetic breakpoints but instead detected a 0.9Mb submicroscopic deletion at 11p14.3. The deleted region involved the 5'-upstream sequences and exons 1-4 of the @entity71858 gene, which encodes a @entity368 zipper protein. Analysis of surrogate germ-line cells revealed a normal result showing that the detected chromosomal aberrations were acquired. This is the first report on a @entity5441 @entity1 associated with a novel complex three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) and a submicroscopic deletion in chromosome band 11p14.3. The study also demonstrates the benefits of oligo-based aCGH analysis in detecting @entity66 related @entity2008 . The present findings provide additional clues to unravel important molecular pathways in @entity5441 to obtain the full spectrum of acquired chromosomal and genomic aberrations in this heterogeneous disease entity. As more cases become characterized this may eventually improve on classification and treatment options.
