Yamai Takuo, Ikezawa Kenji, Sugimoto Naotoshi, Urabe Makiko, Kai Yugo, Takada Ryoji, Nakabori Tasuku, Uehara Hiroyuki, Kawamura Takahisa, Kunimasa Kei, Yamamoto Sachiko, Wakamatsu Toru, Hayashi Takuji, Kukita Yoji, Fujisawa Fumie, Inoue Tazuko, Yamaguchi Yuko, Yamasaki Tomoyuki, Honma Keiichiro, Ohkawa Kazuyoshi
Department of Hepatobiliary and Pancreatic Oncology, Osaka International Cancer Institute, Osaka 541-8567, Japan.
Department of Genetic Oncology, Osaka International Cancer Institute, Osaka 541-8567, Japan.
Cancers (Basel). 2023 Feb 3;15(3):970. doi: 10.3390/cancers15030970.
Although comprehensive genomic profiling (CGP) tests have been covered under the Japanese national health insurance program since 2018, the utility and issues of CGP tests have not been clarified. We retrospectively reviewed 115 patients with incurable pancreatic cancer (IPC) who underwent CGP tests in a Japanese cancer referral center from November 2019 to August 2021. We evaluated the results of CGP tests, treatments based on CGP tests, and survival time. Eight cases (6.9%) were diagnosed as tumor mutation burden-high (TMB-H) and/or microsatellite instability-high (MSI-H). The gene mutation rates of were 93.0/83.0/53.0/25.2%, respectively. Twenty-five patients (21.7%) had homologous recombination deficiency (HRD)-related genetic mutations. Four patients (3.5%) having TMB-H and/or MSI-H were treated with pembrolizumab, and only two patients (1.7%) participated in the clinical trials. Patient characteristics were not significantly different between patients with and without HRD-related gene mutations. The median OS was significantly longer in the HRD (+) group than in the HRD (-) group (749 days vs. 519 days, = 0.047). In multivariate analysis, HRD-related gene mutation was an independent prognostic factor associated with favorable OS. CGP tests for patients with IPC have the potential utility of detecting HRD-related gene mutations as prognostic factors as well as a therapeutic search.
尽管自2018年以来，日本国家医疗保险计划已涵盖综合基因组分析（CGP）检测，但CGP检测的效用和问题尚未明确。我们回顾性分析了2019年11月至2021年8月期间在日本一家癌症转诊中心接受CGP检测的115例不可切除胰腺癌（IPC）患者。我们评估了CGP检测结果、基于CGP检测的治疗方法以及生存时间。8例（6.9%）被诊断为肿瘤突变负荷高（TMB-H）和/或微卫星高度不稳定（MSI-H）。[此处原文缺失相关基因名称，无法准确翻译]的基因突变率分别为93.0%/83.0%/53.0%/25.2%。25例患者（21.7%）存在同源重组缺陷（HRD）相关基因突变。4例（3.5%）TMB-H和/或MSI-H患者接受了帕博利珠单抗治疗，只有2例（1.7%）参与了临床试验。有和没有HRD相关基因突变的患者之间的患者特征没有显著差异。HRD（+）组的中位总生存期明显长于HRD（-）组（749天对519天，P = 0.047）。在多变量分析中，HRD相关基因突变是与良好总生存期相关的独立预后因素。对IPC患者进行CGP检测有可能检测出HRD相关基因突变作为预后因素以及用于治疗探索。
