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Updated: Jan 21, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Genomic Alterations in Gastrointestinal Stromal Tumors as Revealed by Conventional and Array-based Comparative
Selena R Granitto1, Prema Kolachana1, Cristina R Antonescu2
1Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, N.Y. 10021, U.S.A.
Gastrointestinal stromal tumor (GIST) genomic alterations were analyzed using Comparative Genomic Hybridization (CGH). This study identified chromosomal changes that may predict GIST prognosis and response to targeted therapies like Gleevec.
Area of Science:
- Oncology
- Genetics
- Genomics
Background:
- Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms of the GI tract.
- GIST is often unresponsive to chemotherapy, especially in advanced stages.
- Activating KIT or PDGFRA mutations are found in most GISTs, but resistance mechanisms are not fully understood.
Purpose of the Study:
- To identify chromosomal sites of candidate genes in GIST.
- To correlate genomic alterations with clinical behavior and response to targeted therapy (Gleevec).
- To understand molecular genetic alterations in GIST tumorigenesis and resistance.
Main Methods:
- Analysis of six GIST samples using conventional and array-based Comparative Genomic Hybridization (CGH).
- Identification of recurrent chromosomal abnormalities, including losses and gains.
- Delineation of specific chromosomal bands and sub-bands affected by these alterations.
Main Results:
- Common CGH abnormalities included loss of chromosome 14 (entire or partial), 1p, 9 (in metastatic tumors), 15, and 22.
- Gain of chromosome 3q was observed in three samples.
- Array-based CGH identified additional losses on chromosomes 6q and 13q, and refined regions of alteration.
Conclusions:
- Global genomic alterations in GIST provide insights into potential tumor suppressor genes.
- These findings may help predict GIST prognosis and response to targeted therapies.
- Further studies are needed to elucidate the role of identified genes in GIST pathogenesis and treatment outcomes.
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