Microsatellite Instability and Clinical Use in Sarcomas: Systematic Review and Illustrative Case Report.

IF 5.3 2区 医学 Q1 ONCOLOGY
JCO precision oncology Pub Date : 2024-10-01 Epub Date: 2024-10-21 DOI:10.1200/PO.24.00047
Italo Fernandes, Douglas Dias E Silva, Vanderlei Segatelli, Renée Zon Filippi, Ana Carolina de Rezende, Paulo Campregher, Fernando Moura, Reynaldo Jesus-Garcia, Roberto Carmagnani Pestana
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引用次数: 0

Abstract

Sarcomas, a diverse group of malignancies, exhibit substantial heterogeneity in both biological behavior and microenvironment, influencing their response to immunotherapy. Although pembrolizumab is approved for deficient mismatch repair or microsatellite instability-high (dMMR/MSI-H) tumors regardless of histology, there is a paucity of data to support its effectiveness in dMMR/MSI-H sarcomas. This study presents a case of a metastatic undifferentiated pleomorphic sarcoma of the retroperitoneum with dMMR status demonstrating a sustained complete response to pembrolizumab. Our case revealed inconsistencies in identifying dMMR/MSI-H status through next-generation sequencing, immunohistochemistry, and polymerase chain reaction methods. Therefore, we conducted a systematic review to analyze various methods for assessing dMMR/MSI-H and to explore whether pembrolizumab's indications rely on this biomarker.

微卫星不稳定性与肉瘤的临床应用:系统综述与说明性病例报告。
肉瘤是一种多种多样的恶性肿瘤,在生物学行为和微环境方面都表现出很大的异质性,从而影响了它们对免疫疗法的反应。尽管pembrolizumab已被批准用于错配修复缺陷或微卫星不稳定性高(dMMR/MSI-H)的肿瘤(无论组织学如何),但支持其对dMMR/MSI-H肉瘤有效的数据却很少。本研究介绍了一例具有dMMR状态的腹膜后转移性未分化多形性肉瘤对pembrolizumab的持续完全应答。我们的病例揭示了通过新一代测序、免疫组化和聚合酶链反应方法确定 dMMR/MSI-H 状态的不一致性。因此,我们进行了一项系统综述,分析评估 dMMR/MSI-H 的各种方法,并探讨 pembrolizumab 的适应症是否依赖于该生物标志物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
9.10
自引率
4.30%
发文量
363
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