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首页> 外文期刊>Virchows Archiv: an international journal of pathology >Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors
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Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors

机译：试剂盒和PDGFRA野生型胃肠基质肿瘤患者BRAF基因突变检测

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Gastrointestinal stromal tumors (GISTs) are characterized by mutations in exons 9, 11, 13, and 17 of KIT or exons 12, 14, and 18 of PDGFRA gene. However, approximately 10 to 15 % of GISTs lack the mutations in KIT and PDGFRA, and these are referred to as wild-type GISTs which are less sensitive to tyrosine-kinase inhibitors. The aim of this study was to detect BRAF mutations in patients with wild-type GISTs. We applied a sensitive allele-specific PCR, which was optimized using the V600E mutation-harboring cell line RKO, followed by verification of the results by dideoxy sequencing. We selected 149 GIST patients without detectable mutations in KIT and PDGFRA genes from the Slovak national GIST register and analyzed biopsy specimens for the presence of BRAF mutations in exon 15. We identified nine patients with the V600E mutation. The BRAF-driven GISTs were primary gastric (n = 3), small intestinal (n = 3), colon (n = 1), and of uncertain origin (n = 1). We also included a liver metastasis of a patient with a simultaneous KIT exon 11-mutated intra-abdominal metastasis. We conclude that genome analysis of wild-type GISTs for mutations should include the BRAF gene, as its mutation status contributes to understanding of pathogenesis and might be important for decisions on therapy.
机译：胃肠道肿瘤（GISTS）的特征在于试剂盒或外显子12,14和18的外显子9,11,13和17的突变。然而，大约10％至15％的GIST缺乏试剂盒和PDGFRa的突变，并且这些是对酪氨酸激酶抑制剂敏感的野生型GINT。本研究的目的是检测野生型GIST患者的BRAF突变。我们应用了一种敏感的等位基因特异性PCR，其使用V600E突变窝水细胞系RKO进行了优化，然后通过双脱氧测序验证结果。我们选择了149名GIST患者，没有试剂盒和PDGFRA基因的可检测突变，来自斯洛伐克国家GIST注册，并分析了外显子15的BRAF突变的活检标本。我们确定了九患有v600e突变的患者。 BRAF驱动的GIST是原发性胃（n = 3），小肠（n = 3），结肠（n = 1），并且不确定的原点（n = 1）。我们还包括患者的肝脏转移，同时套件外显子11-突变的腹部转移。我们得出结论，突变突变的基因组分析应包括BRAF基因，因为其突变状态有助于理解发病机制，可能对治疗决策可能是重要的。

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