Division of Clinical Cancer Genomics, Hokkaido University Hospital, Sapporo, Japan.
Department of Respiratory Medicine, Faculty of Medicine, Hokkaido University, Sapporo, Japan.
Jpn J Clin Oncol. 2021 Apr 30;51(5):753-761. doi: 10.1093/jjco/hyaa277.
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.
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.
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.
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.
最近，综合癌症基因组分析已用于晚期实体瘤患者。自 2019 年 6 月起，日本公共医疗保险覆盖了两种用于无标准治疗患者的癌症基因组分析测试。
我们前瞻性分析了 2019 年 8 月至 2020 年 7 月在北海道大学医院及其联络医院接受两种癌症基因组分析测试且其结果在北海道大学医院分子肿瘤委员会进行讨论的 189 例实体瘤患者的数据。
所有 189 例患者均获得了适当的结果。在 93 例（49%）患者中发现了可操作的基因改变。常见的突变包括 PIK3CA（12%）突变、BRCA1/2 改变（7%）、ERBB2 扩增（6%）和肿瘤突变负担高（4%）。从样本运输到专家组获得样本的中位周转时间为 26 天。虽然 115 例（61%）患者获得了与基因型匹配的治疗相关信息，但仅 21 例（11%）接受了治疗。值得注意的是，8 例年龄在 20 岁以下的患者中有 4 例获得了与基因型匹配的治疗相关信息，且 3 例接受了治疗。他们的反应率和疾病控制率分别为 29%和 67%。大多数未接受基因型匹配治疗的患者仅获得了位于日本中部偏远临床试验地点的 I 期和 II 期研究药物的信息。26 例患者被通知疑似种系发现，而 11 例（42%）患者接受了遗传咨询。
公共报销的癌症基因组分析可能会导致对无标准治疗的实体瘤患者进行与基因型匹配的治疗，带来适度但有利的治疗效果。然而，仍需要解决基因型匹配治疗的可及性问题。
