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Copy number data from GIST with KIT mutation

ABSTRACT: In addition to KIT and PDGFRA mutations, sequential accumulation of other genetic events is involved in the development and progression of gastrointestinal stromal tumors (GISTs). Until recently, the significance of these other alterations has not been thoroughly investigated. The combination of gene expression profiling and high-resolution genomic copy number analysis offers a detailed molecular portrait of GISTs, providing an essential comprehensive knowledge necessary to guide the discovery of novel target genes involved in tumor development and progression. Fresh tissue specimens from 25 patients with GIST were collected and high-resolution genomic copy number analyses were performed using Affymetrix SNP array 6.0. GIST tumor samples from mutated (KIT or PDGFRA) or Wild Type patients were labeled for hybridization on Affymetrix microarrays. Copy number analysis of Affymetrix SNP6.0 arrays was performed for 25 GIST samples, then compared to gene expression data.

ORGANISM(S): Homo sapiens

SUBMITTER: Maria Pantaleo 

PROVIDER: E-GEOD-20709 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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A molecular portrait of gastrointestinal stromal tumors: an integrative analysis of gene expression profiling and high-resolution genomic copy number.

Astolfi Annalisa A   Nannini Margherita M   Pantaleo Maria Abbondanza MA   Di Battista Monica M   Heinrich Michael C MC   Santini Donatella D   Catena Fausto F   Corless Christopher L CL   Maleddu Alessandra A   Saponara Maristella M   Lolli Cristian C   Di Scioscio Valerio V   Formica Serena S   Biasco Guido G  

Laboratory investigation; a journal of technical methods and pathology 20100614 9

In addition to KIT and PDGFRA mutations, sequential accumulation of other genetic events is involved in the development and progression of gastrointestinal stromal tumors (GISTs). Until recently, the significance of these other alterations has not been thoroughly investigated. We report the first study that integrates gene expression profiling and high-resolution genomic copy number analyses in GIST. Fresh tissue specimens from 25 patients with GIST were collected, and gene expression profiling  ...[more]

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