A prospective epidemiological study of new incident GISTs during two consecutive years in Rhône Alpes region: incidence and molecular distribution of GIST in a European region.

A prospective epidemiological study of new incident GISTs during two consecutive years in Rhône Alpes region: incidence and molecular distribution of GIST in a European region.
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DOI:
10.1038/sj.bjc.6605743
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发表时间:
2010-07-13
影响因子:
8.8
通讯作者:
--
中科院分区:
医学1区
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--
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初步资料表明,局部胃肠道间质瘤(GIST)的分子流行病学可能与晚期胃肠道间质瘤不同。我们试图调查法国罗纳-阿尔卑斯地区肉瘤的分子流行病学,包括GIST。在法国罗纳-阿尔卑斯大区进行了一项前瞻性和详尽的研究,通过系统的集中病理检查和分子分析,连续2年评估原发性肉瘤的确切发病率。在760例确诊为肉瘤的患者中,131例(17%)有GIST。大多数患者为胃原发(61%)。106份肿瘤样本(74%)可以进行突变分析,其中71份(67%)具有外显子11突变。在16%的病例中发现PDGFRA突变,这是先前报道的晚期GIST的两倍。数据表明,局部GIST中的PDGFRA突变可能是先前报道的晚期疾病患者的两倍。这一发现可能对接受伊马替尼辅助治疗的患者产生重要影响,尽管这些肿瘤大多属于低风险组。
Preliminary data indicate that the molecular epidemiology of localised gastrointestinal stromal tumour (GIST) may be different from that of advanced GIST. We sought to investigate the molecular epidemiology of sarcomas, including GIST, in the Rhone-Alpes region in France. A prospective and exhaustive study in the Rhone-Alpes Region in France to assess the precise incidence of primary sarcomas with systematic centralised pathological review and molecular analysis was conducted for 2 consecutive years. Among 760 patients with a confirmed diagnosis of sarcoma, 131 (17%) had a GIST. The majority of patients had gastric primaries (61%). Mutational analysis could be performed in 106 tumour samples (74%), and 71 (67%) had exon 11 mutations. PDGFRA mutations were found in 16% of cases, which is twice as high as previously reported for advanced GIST. Data indicate that PDGFRA mutations in localised GIST may be twice as high as what was previously reported in patients with advanced disease. This finding may have important consequences for patients offered adjuvant imatinib, although most of these tumours are in the low-risk group.
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