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临床实践中用于评估实体瘤的微卫星不稳定性检测的实施。

Implementation of microsatellite instability testing for the assessment of solid tumors in clinical practice.

机构信息

Department of Gastroenterological Chemotherapy, Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan.

Department of Pathology, Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan.

出版信息

Cancer Med. 2023 Apr;12(7):7932-7940. doi: 10.1002/cam4.5569. Epub 2022 Dec 26.

Abstract

BACKGROUND

In Japan, microsatellite instability (MSI) testing for solid tumors was introduced in clinical practice in December 2018. Although immune checkpoint inhibitors (ICIs) are established standards of care for patients with MSI-high tumors, the status of implementing MSI testing in clinical practice remains unclear.

METHODS

We retrospectively reviewed the medical records of patients with solid tumors who underwent MSI testing between January 2019 and December 2020 at our institution.

RESULTS

In total, 1,052 MSI tests were performed in 1,047 patients. Regardless of specimen volume and condition, the MSI status was successfully determined in 1,041 (99.0%) tests, encompassing 27 tumor types (microsatellite stable [MSS] or MSI-low: n = 991 [95.2%] and MSI-high: n = 50 [4.8%]). Patients whose specimens were fixed with 20% neutral buffered formalin (NBF) and who had specimens with prolonged storage (98.4% and 95.4%) showed lower success rates than those whose specimens were fixed with 10% NBF and who had specimens with nonprolonged storage (100.0% and 99.6%), respectively. The prolonged turnaround time (TAT) in MSI-high cases (median TAT: 24 days) was a critical issue that directly resulted in treatment delay. Of the 50 patients with MSI-high tumors, 24 (48.0%) received ICIs and 34 (68.0%) were referred to the Department of Clinical Genetic Oncology where 6 (12.0%) patients were diagnosed with Lynch syndrome.

CONCLUSIONS

MSI testing was successfully performed for various types of tumors and specimens in clinical practice. Our study results identified certain issues associated with the clinical implementation of MSI testing, including optimal specimen selection, extended TAT in MSI-high cases, and awareness of hereditary tumors.

摘要

背景

2018 年 12 月,日本将微卫星不稳定性(MSI)检测引入实体瘤的临床实践。虽然免疫检查点抑制剂(ICI)是 MSI 高肿瘤患者的标准治疗方法,但 MSI 检测在临床实践中的实施情况尚不清楚。

方法

我们回顾性分析了 2019 年 1 月至 2020 年 12 月期间在我院进行 MSI 检测的 1047 例实体瘤患者的病历。

结果

共进行了 1052 次 MSI 检测,涉及 27 种肿瘤类型(微卫星稳定[MSS]或 MSI-低:991 例[95.2%]和 MSI-高:50 例[4.8%])。无论标本体积和状况如何,1041 次(99.0%)检测均成功确定了 MSI 状态,固定于 20%中性缓冲福尔马林(NBF)和储存时间较长(分别为 98.4%和 95.4%)的标本的成功率低于固定于 10%NBF 和储存时间非延长(分别为 100.0%和 99.6%)的标本。MSI-高病例的较长检测周转时间(TAT)(中位 TAT:24 天)是一个关键问题,直接导致治疗延迟。在 50 例 MSI-高肿瘤患者中,24 例(48.0%)接受了 ICI 治疗,34 例(68.0%)被转至临床遗传肿瘤学系,其中 6 例(12.0%)患者被诊断为林奇综合征。

结论

MSI 检测在临床实践中成功地应用于各种类型的肿瘤和标本。我们的研究结果确定了与 MSI 检测临床实施相关的一些问题,包括最佳标本选择、MSI-高病例 TAT 延长以及遗传性肿瘤的认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbb6/10134335/fdd78eb045cf/CAM4-12-7932-g003.jpg

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