Secondary c-kit Mutation in a Recurrent Gastrointestinal Stromal Tumor Under Long-Term Treatment with Imatinib Mesylate: Report of a Case
Secondary c-kit Mutation in a Recurrent Gastrointestinal Stromal Tumor Under Long-Term Treatment with Imatinib Mesylate: Report of a Case
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长期接受甲磺酸伊马替尼治疗的复发性胃肠道间质瘤中继发性 c-kit 突变：病例报告
DOI：
10.1007/s00595-007-3559-8
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发表时间：
2007
期刊：
影响因子：
2.5
通讯作者：
T. Ishida
中科院分区：
文献类型：
--
作者：
T. Utsunomiya;M. Okamoto;S. Yano;T. Kameyama;A. Matsuyama;S. Kuma;Manabu Yamamoto;M. Fujiwara;T. Ishida
胃肠道间质瘤（GIST）通常携带致癌突变的kitreceptor基因，这是伊马替尼甲磺酸盐的目标。然而，伊马替尼耐药性是一个日益严重的临床问题。我们在此提出了这样一个情况下，复发性胃肠道间质瘤，与发展的继发性突变的kitgene。一位67岁的男性，患有胃肠道间质瘤伴多发性肝转移，接受了胃部分切除术、远端胰腺切除术和部分肝切除术。手术后，他接受了伊马替尼治疗。然而，在大约4年的治疗期间，检测到肝脏GIST复发，再次进行了部分肝切除术。原发性GIST在第11外显子存在组成性缺失突变。此外，复发性肝肿瘤在外显子13上发生了继发性点突变（Val 654 Ala），这可能是伊马替尼耐药的原因。
Gastrointestinal stromal tumors (GISTs) commonly harbor oncogenic mutations of thec-kitreceptor gene, which are targets for imatinib mesylate. However, imatinib resistance is an increasing clinical problem. We herein present such a case with a recurrent GIST, in association with the development of a secondary mutation in thec-kitgene. A 67-year-old man, who had a GIST of the stomach with multiple liver metastases, underwent a partial gastrectomy, distal pancreatectomy, and partial hepatectomy. After surgery, he was treated with imatinib. However, during the approximately 4-year treatment period, a recurrence of the GIST in the liver was detected, for which a partial hepatectomy was again performed. The primary GIST constitutively had a deletion mutation in exon 11. In addition, the recurrent hepatic tumor developed a secondary point mutation (Val654Ala) in exon 13, which may be responsible for the imatinib resistance.
十二指肠胃肠道间质瘤多发肝转移病例经伊马替尼和肝切除治疗后，其长期生存率显着降低。
DOI：
--
发表时间：
2006
期刊：
World J Gastroenterol. 12(17)
影响因子：
--
作者：
Sakakura C;Hagiwara A;Soga K;Miyagawa K;Nakashima S;Yoshikawa T;Kin S;Nakase Y;Yamaoka N;Sagara Y;Yamagishi H.
通讯作者：
Yamagishi H.
伊马替尼治疗晚期耐药与转移性胃肠间质瘤中的第二个 KIT 突变相关。
DOI：
--
发表时间：
2004
期刊：
Br J Cancer 90
影响因子：
--
作者：
Wakai T;Hirota S;et al.
通讯作者：
et al.