Prognostic value of mutational characteristics in gastrointestinal stromal tumors: a single-center experience in 275 cases

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• 作者：Ming Wang (1)
  Jia Xu (1)
  Wenyi Zhao (1)
  Lin Tu (1)
  Weiqing Qiu (1)
  Chaojie Wang (1)
  Yangyin Shen (2)
  Qiang Liu (2)
  Hui Cao (1)
  
• 关键词：Gastrointestinal stromal tumors ; KIT ; PDGFRA ; Mutation ; Survival
• 刊名：Medical Oncology
• 出版年：2014
• 出版时间：January 2014
• 年：2014
• 卷：31
• 期：1
• 全文大小：
• 作者单位：Ming Wang (1)
  Jia Xu (1)
  Wenyi Zhao (1)
  Lin Tu (1)
  Weiqing Qiu (1)
  Chaojie Wang (1)
  Yangyin Shen (2)
  Qiang Liu (2)
  Hui Cao (1)
  
  1. Department of General Surgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, P.O. Box 200127, Shanghai, China
  2. Department of Pathology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
  
• ISSN：1559-131X

文摘

The objective of this study was to investigate the impact of KIT/PDGFRA mutations on the prognosis of gastrointestinal stromal tumors (GISTs). In the present study, genotype analyses were performed based on GIST samples from 275 patients. The relationship between mutation and clinicopathological characteristics were explored. All factors were evaluated for their impacts on relapse-free survival (RFS). Briefly, the results of genotype analyses showed that mutations were identified in 258 (93.8%) patients, and deletion was the most frequent type of mutation accounting for 47.3% (122/258) of all mutation cases, followed by substitution (87/258, 33.7%) and duplication (49/258, 19.0%). Moreover, for KIT exon 11 mutation, the most frequently involved area was from codon 557 to 560. Deep analyses showed that the mutation types were correlated with tumor location (P=0.005), tumor size (P=0.022), mitosis rate (P<0.001), risk grade (P<0.001), and relapse (P=0.004). Furthermore, delW557-K558 correlated with mitosis rate (P=0.042) and relapse (P=0.036), and delTyr568/570 correlated with tumor origin (P=0.018). Most importantly, mitotic rate [HR=2.901 (95% CI 1.094.695), P=0.032] and risk grade [HR=9.629 (95% CI 1.9976.416), P=0.005] would be the representative traditional prognostic factors, and deletion with >3codons would be an novel independent predictor of poor outcome for RFS in GIST patients with deletion mutation of KIT exon 11 [HR=7.970 (95% CI 1.7745.803), P=0.007]. All results indicated that mutation determined clinicopathological features and prognosis of GISTs, and more than three codons involvement may be a novel adverse indicator.