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  • Title: Aberrations of chromosome 13q in gastrointestinal stromal tumors: analysis of 91 cases by fluorescence in situ hybridization (FISH).
    Author: Zhou W, Zeng X, Liu T.
    Journal: Diagn Mol Pathol; 2009 Jun; 18(2):72-80. PubMed ID: 19430298.
    Abstract:
    The clinical behavior of gastrointestinal stromal tumors (GISTs) ranges from benign to malignant. Recent studies suggest that loss of 13q could be correlated with GIST progression. Our objectives were: (1) to detect chromosome 13q aberrations and determine the corresponding gene status in GISTs; and (2) to assess potential roles of 13q aberrations in GIST by correlating various 13q aberrations with various histologic parameters and disease-free survival in a group of GIST patients. Ninety-one cases of primary GISTs in Chinese patients were studied by dual color fluorescence in situ hybridization (FISH), through use of a panel of bacterial artificial chromosome clones RP11-685I15, RP11-352N7, and RP11-505F3 covering the Rb, RFP2, KCNRG, and KLF5 genes, respectively. Loss of RP11-685I15 was detected in 17/91 (18.7%) cases, loss of RP11-352N7 in 11/91 (12.1%) cases, and loss of RP11-505F3 in 5/91 (5.5%) cases. Chromosome 13 polysomy was observed in 22/91 (24.2%) cases. The frequency of RP11-685I15 deletion was positively correlated with tumor risk (P=0.0460). The frequency of RP11-352N7 deletion, RP11-505F3 deletion, and chromosome 13 polysomy tended to be higher in the high-risk GISTs. Shorter disease-free survival was significantly associated with RP11-352N7 deletion (P=0.0361) and high-risk grade (P=0.0003). Chromosome 13 instability of GISTs may play a role in tumor progression. Loss of 13q, especially loss of Rb, RFP2, KCNRG, and KLF5 genes are frequent events in high-risk GISTs. Loss of 13q may be associated with tumor progression.
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