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.
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页数：15
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