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[帕博利珠单抗治疗微卫星高度不稳定患者的临床结局及遗传咨询]

[Clinical Outcome of Microsatellite Instability-High Patients Treated with Pembrolizumab and Genetic Counseling].

作者信息

Shimura Soichiro, Tsumura Hideyasu, Araki Naomi, Kawada Rika, Shimazu Sho, Waraya Mina, Yoshida Tsutomu, Takada Fumio, Iwamura Masatsugu, Sasaki Jiichiro

机构信息

Dept. of Urology, Kitasato University School of Medicine.

出版信息

Gan To Kagaku Ryoho. 2022 Oct;49(10):1099-1104.

PMID:36281602
Abstract

Prospective studies have demonstrated the efficacy of pembrolizumab in patients with previously treated unresectable or metastatic microsatellite instability-high(MSI-H)cancers. Pembrolizumab has been covered by the Japanese health insurance system since December 2018. The frequency of MSI-H in patients is as low as approximately 2%. In addition, some patients with MSI-H cancers are diagnosed with Lynch syndrome. In the present study, we retrospectively investigated patients who received MSI testing at Kitasato University Hospital from April 2019 to June 2020. We also investigated the therapeutic effect of pembrolizumab for MSI-H cancers and patients who received genetic counseling for Lynch syndrome. Results identified that 5 out of 263 patients who underwent MSI testing(1.9%)had MSI-H. The therapeutic outcomes of pembrolizumab in those patients were as follows: 1(20%)complete response, 3(60%)partial response, and 1(20%) progressive disease. The positive-outcome rate of MSI-H treatment in our institution was comparable to that in the previous reports. The high response rate of pembrolizumab was confirmed in the present study. Four out of 5 patients received genetic counseling at the genetic clinic, and 1 patient underwent genetic testing for Lynch syndrome. No deleterious variant of Lynch syndrome was detected in the genetic testing.

摘要

前瞻性研究已证明帕博利珠单抗对先前接受过治疗的不可切除或转移性微卫星高度不稳定(MSI-H)癌症患者有效。自2018年12月起,帕博利珠单抗已被纳入日本医疗保险体系。MSI-H患者的比例低至约2%。此外,一些MSI-H癌症患者被诊断为林奇综合征。在本研究中,我们回顾性调查了2019年4月至2020年6月在北里大学医院接受MSI检测的患者。我们还调查了帕博利珠单抗对MSI-H癌症的治疗效果以及接受林奇综合征遗传咨询的患者情况。结果发现,在263例接受MSI检测的患者中,有5例(1.9%)为MSI-H。帕博利珠单抗对这些患者的治疗结果如下:1例(20%)完全缓解,3例(60%)部分缓解,1例(20%)疾病进展。本机构中MSI-H治疗的阳性结果率与先前报告中的相当。在本研究中证实了帕博利珠单抗的高缓解率。5例患者中有4例在遗传门诊接受了遗传咨询,1例患者接受了林奇综合征的基因检测。基因检测未发现林奇综合征的有害变异。

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