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

被引：4

作者：

Fernandes, Italo ^{[1
]}

Silva, Douglas ^{[1
]}

Segatelli, Vanderlei ^{[1
]}

Filippi, Renee Zon ^{[1
]}

de Rezende, Ana Carolina ^{[1
]}

Campregher, Paulo ^{[1
]}

Moura, Fernando ^{[1
]}

Jesus-Garcia, Reynaldo ^{[1
]}

Pestana, Roberto Carmagnani ^{[1
]}

机构：

[1] Hosp Israelita Albert Einstein, Sao Paulo, Brazil

来源：

JCO PRECISION ONCOLOGY | 2024年 / 8卷

关键词：

SOFT-TISSUE SARCOMA; MISMATCH-REPAIR; OPEN-LABEL; PLEOMORPHIC RHABDOMYOSARCOMA; PLUS CHEMOTHERAPY; PEMBROLIZUMAB; PATIENT; THERAPY; TUMOR; LEIOMYOSARCOMA;

D O I：

10.1200/PO.24.00047

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：15

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