SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.

Claudio Tripodo, Alessandro Isidori, Massimo Valentini, Stefania Paolini, Anna Gazzola, Simona Righi, Claudia Mannu, Maria Rosaria Sapienza, Maria Antonella Laginestra, Carlo A. Sagramoso Sacchetti, Meris Donati, Stefano A. Pileri, Maura Rossi, Stefania Paolini, Roberto Emiliani, Francesco Alesiani, Pier Paolo Piccaluga, Michele De Nictolis, Giuseppe Visani, Carlo Finelli

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1-10
Number of pages10
JournalPLoS One
Volume6
Publication statusPublished - 2011

All Science Journal Classification (ASJC) codes

  • General Biochemistry,Genetics and Molecular Biology
  • General Agricultural and Biological Sciences
  • General

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