We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.
- Authors
Visani, Giuseppe; Sapienza, Maria Rosaria; Isidori, Alessandro; Tripodo, Claudio; Laginestra, Maria Antonella; Righi, Simona; Sagramoso Sacchetti, Carlo A; Gazzola, Anna; Mannu, Claudia; Rossi, Maura; De Nictolis, Michele; Valentini, Massimo; Donati, Meris; Emiliani, Roberto; Alesiani, Francesco; Paolini, Stefania; Finelli, Carlo; Pileri, Stefano A; Piccaluga, Pier Paolo
- Abstract
The molecular pathogenesis of primary mielofibrosis (PMF) is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A) allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD) at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q), del(20q), del(13q), +8, aUPD at 9p24 and abnormalities on chromosome 1). In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytoband 20p13 in 55% of patients. We defined a minimal affected region (MAR), an amplification of 9,911 base-pair (bp) overlapping the SIRPB1 gene locus. Noteworthy, by extending the analysis to the adjacent areas, the cytoband was overall affected in 95% of cases. Remarkably, these results were confirmed by real-time PCR and validated in silico in a large independent series of myeloproliferative diseases. Finally, by immunohistochemistry we found that SIRPB1 was over-expressed in the bone marrow of PMF patients carrying 20p13 amplification. In conclusion, we identified a novel highly recurrent genomic lesion in PMF patients, which definitely warrant further functional and clinical characterization.
- Publication
PloS one, 2011, Vol 6, Issue 11, pe27560
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0027560