Low Frequency of Mutation Testing in the United States An Analysis of 3866 GIST Patients
Low Frequency of Mutation Testing in the United States An Analysis of 3866 GIST Patients
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DOI：
10.1097/coc.0000000000000659
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发表时间：
2020-04-01
影响因子：
2.6
通讯作者：
Trent, Jonathan
中科院分区：
文献类型：
--
作者：
Florindez, Jorge;Trent, Jonathan
目的：本研究的目的是确定在局部或转移性胃肠道肿瘤（GIST）患者中是否存在与KIT突变检测、KIT突变类型和其他临床变量相关的生存差异。方法：从2010 - 2015年监测流行病学和最终结果（SEER）数据库中提取成年GIST患者，随访至2016年。总生存期（OS）和癌症特异性生存期（CSS）是指定的终点。结果：3866例患者符合纳入标准。656例（17%）患者存在转移性疾病，而3210例（83%）患者存在局限性疾病。1033例患者（26.7%）进行了KIT突变检测，在局限性和转移性疾病中分布均匀（分别为27%和26.6%）。对局部和转移性GIST进行多变量分析。在局部GIST中，黑人表现出较差的OS（风险比[HR]=1.57, 95%可信区间[CI]: 1.26-1.96），而较高的有丝分裂率（>5/50 HPF）表现出较差的OS（风险比=1.59,95% CI: 1.24-2.05）和CSS（风险比=3.07,95% CI: 2.07-4.54）；肿瘤大小（bbb10 cm）表现为差CSS （HR=5.73; 95% CI: 2.37 ~ 13.8）。在转移性GIST中，黑人表现为较差的OS （HR=1.42, 95% CI: 1.04-1.93）和CSS (HR=1.73, 95% CI: 1.18-2.54)，而KIT检测与较好的OS （HR=0.64, 95% CI: 0.47-0.87）和CSS （HR=0.66, 95% CI: 0.44-0.97）相关；酪氨酸激酶抑制剂治疗显示出更好的OS （HR=0.67; 95% CI: 0.51-0.88）。在局部和转移性GIST中，手术切除与更好的OS （HR=0.56; 0.47-0.67）和CSS （HR=0.55; 95% CI: 0.42-0.72）相关。结论：少数GIST患者对其肿瘤进行KIT突变检测。然而，KIT检测和酪氨酸激酶抑制剂治疗与GIST转移性疾病患者更好的生存率相关。手术对局部GIST有潜在的治疗作用，对转移性胃癌也有好处。
Objective: The objective of this study was to determine whether there were survival differences associated with KIT mutation testing, type of KIT mutations, and other clinical variables in patients with localized or metastatic gastrointestinal tumor (GIST). Methods: Adult patients with GIST were extracted from the Surveillance Epidemiology and End Results (SEER) database from 2010 to 2015 with follow-up through 2016. Overall survival (OS) and cancer-specific survival (CSS) were the designated endpoints. Results: A total of 3866 patients met inclusion criteria. Metastatic disease was found in 656 patients (17%), whereas localized disease was present in 3210 patients (83%). KIT mutation testing was performed in 1033 patients (26.7%) with equal distribution in localized and metastatic disease (27% and 26.6%, respectively). Multivariate analysis was performed in localized and metastatic GIST. In localized GIST, black race showed worse OS (hazard ratio [HR]=1.57; 95% confidence interval [CI]: 1.26-1.96), whereas higher mitotic rate (>5/50 HPF) demonstrated poor OS (HR=1.59; 95% CI: 1.24-2.05) and CSS (HR=3.07; 95% CI: 2.07-4.54); tumor size (>10 cm) showed poor CSS (HR=5.73; 95% CI: 2.37-13.8). In metastatic GIST, black race showed poor OS (HR=1.42; 95% CI: 1.04-1.93) and CSS (HR=1.73; 95% CI: 95% CI: 1.18-2.54), while KIT testing was associated with better OS (HR=0.64; 95% CI: 0.47-0.87) and CSS (HR=0.66; 95% CI: 0.44-0.97); treatment with tyrosine kinase inhibitors showed better OS (HR=0.67; 95% CI: 0.51-0.88). Surgical resection was associated with better OS (HR=0.56; 0.47-0.67) and CSS (HR=0.55; 95% CI: 0.42-0.72) both in localized and metastatic GIST. Conclusions: The minority of GIST patients have their tumor tested for any KIT mutation. Yet, KIT testing and therapy with tyrosine kinase inhibitors were associated with better survival in GIST patients with metastatic disease. Surgery, potentially curative for localized GIST, shows benefit in the metastatic setting.