Array-based genomic screening at diagnosis and during follow-up in XXXX .

@entity1 @entity2214 @entity146 @entity1072 @entity72762 @entity7513
BACKGROUND: High-resolution genomic microarrays enable simultaneous detection of copy-number aberrations such as the known recurrent aberrations in @entity1072 [del(11q), del(13q), @entity72762 ], and copy-number neutral loss of heterozygosity. Moreover, comparison of genomic profiles from sequential @entity1 ' samples allows detection of @entity2214 . DESIGN AND METHODS: We screened samples from 369 @entity1 with newly diagnosed @entity1072 from a population-based cohort using 250K single nucleotide polymorphism-arrays. @entity2214 was evaluated in 59 follow-up samples obtained after 5-9 years. RESULTS: At diagnosis, copy-number aberrations were identified in 90% of @entity1 ; 70% carried known recurrent alterations, including del(13q) (55%), trisomy 12 (10.5%), del(11q) (10%), and del(17p) (4%). Additional recurrent aberrations were detected on chromosomes 2 (1.9%), 4 (1.4%), 8 (1.6%) and 14 (1.6%). Thirteen @entity1 (3.5%) displayed recurrent copy-number neutral loss of heterozygosity on 13q, of whom 11 had concurrent homozygous del(13q). Genomic complexity and large 13q deletions correlated with inferior outcome, while the former was linked to poor-prognostic aberrations. In the follow-up study, @entity2214 developed in 8/24 (33%) @entity1 with unmutated @entity7513 , and in 4/25 (16%) @entity7513 -mutated and treated @entity1 . In contrast, untreated @entity1 with mutated @entity7513 (n=10) did not acquire additional aberrations. The most common secondary event, del(13q), was detected in 6/12 (50%) of all @entity1 with acquired alterations. Interestingly, aberrations on, for example, chromosome 6q, 8p, 9p and 10q developed exclusively in @entity1 with unmutated @entity7513 . CONCLUSIONS: Whole-genome screening revealed a high frequency of genomic aberrations in newly diagnosed @entity1072 . @entity2214 was associated with other markers of @entity146 and commonly included the known recurrent aberrations.
