Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan
Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan
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DOI：
10.1093/jjco/hyaa277
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发表时间：
2021-02-03
影响因子：
2.4
通讯作者：
Kinoshita, Ichiro
中科院分区：
文献类型：
--
作者：
Kikuchi, Junko;Ohhara, Yoshihito;Kinoshita, Ichiro
背景：最近，全面的癌症基因组图谱已被用于晚期实体癌患者。自2019年6月起，日本公共医疗保险覆盖了两项针对非标准治疗患者的癌症基因组图谱测试。方法：对北海道大学医院及其联络医院于2019年8月至2020年7月期间在北海道大学医院及其联络医院接受两种癌症基因组图谱测试之一的189例实体癌患者的数据进行前瞻性分析，并在北海道大学医院分子肿瘤委员会上进行讨论。在93名患者(49%)中发现了可操作的基因改变。常见突变包括PIK3CA突变(12%)、BRCA1/2改变(7%)、ERBB2扩增(6%)和肿瘤高负荷突变(4%)。从样品运输到专家小组采购的周转时间中位数为26天。虽然115名患者(61%)获得了基因型匹配治疗的信息，但只有21名患者(11%)接受了这些信息。值得注意的是，在8名20岁以下的患者中，有4人获得了基因匹配治疗的信息，其中3人接受了治疗。有效率和疾病控制率分别为29%和67%。在日本中部遥远的临床试验地点，大多数没有接受基因匹配治疗的患者只获得了I期和II期研究药物的信息。26名患者被告知了可疑的种系发现，11名患者(42%)接受了遗传咨询。结论：公开报销的癌症基因组图谱可能会导致对没有标准治疗的实体癌患者进行基因匹配治疗，疗效适中但良好。然而，难以获得基因型匹配治疗的问题需要解决。
Background: Comprehensive cancer genomic profiling has been used recently for patients with advanced solid cancers. Two cancer genomic profiling tests for patients with no standard treatment are covered by Japanese public health insurance since June 2019.Methods: We prospectively analyzed data of 189 patients with solid cancers who underwent either of the two-cancer genomic profiling tests at Hokkaido University Hospital and its liaison hospitals and whose results were discussed in molecular tumor board at Hokkaido University Hospital between August 2019 and July 2020.Results: All 189 patients had appropriate results. Actionable gene alterations were identified in 93 patients (49%). Frequent mutations included PIK3CA (12%) mutation, BRCA1/2 alteration (7%), ERBB2 amplification (6%) and tumor mutation burden-High (4%). The median turnaround time from sample shipping to acquisition by the expert panel was 26 days. Although 115 patients (61%) were provided with information for genotype-matched therapies, only 21 (11%) received them. Notably, four of eight patients below the age of 20 years were provided information for genotype-matched therapies, and three received them. Their response rates and disease control rates were 29% and 67%, respectively. Most patients who did not undergo the genotype-matched therapies were provided information for only investigational drugs in phases I and II at distant clinical trial sites in central Japan. Twenty-six patients were informed of suspected germline findings, while 11 patients (42%) received genetic counseling.Conclusions: The publicly reimbursed cancer genomic profilings may lead to the modest but favorable therapeutic efficacy of genotype-matched therapy for solid cancer patients with no standard therapy. However, poor access to genotype-matched therapy needs to be resolved.